{ "HSCR_20596": { "sampleName": "HSCR_20596-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_20596-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_20596-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_21275": { "sampleName": "HSCR_21275-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_21275-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_21275-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_23988": { "sampleName": "HSCR_23988-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_23988-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_23988-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_24412": { "sampleName": "HSCR_24412-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_24412-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_24412-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_7737": { "sampleName": "HSCR_7737-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_7737-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_7737-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_7360_tw": { "sampleName": "HSCR_7360-Hirschprungs_tw", "experimentType": "TLRS", "fastqFile": [ "HSCR_7360-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_7360-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_7434_tw": { "sampleName": "HSCR_7434-Hirschprungs_tw", "experimentType": "TLRS", "fastqFile": [ "HSCR_7434-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_7434-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_7360": { "sampleName": "HSCR_7360-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_7360-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_7360-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "HSCR_7434": { "sampleName": "HSCR_7434-Hirschprungs", "experimentType": "TLRS", "fastqFile": [ "HSCR_7434-ONT-RU-01.guppy507.pass.fastq.gz", "HSCR_7434-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.HSCR.gene.cnv.tsv" }, "BK486-03": { "sampleName": "BK486-03-NDD-GENES", "experimentType": "TLRS", "fastqFile": [ "BK486-03-ONT-RU-01.guppy507.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "BK393-202_guppy507_fast": { "sampleName": "BK393-202_NDD_fast", "experimentType": "TLRS", "fastqFile": [ "BK393-202-ONT-RU-03.guppy507.dna_r9.4.1_450bps_fast.cfg.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "BK393-202_guppy507_hac": { "sampleName": "BK393-202_NDD_hac", "experimentType": "TLRS", "fastqFile": [ "BK393-202-ONT-RU-03.guppy507.dna_r9.4.1_450bps_hac.cfg.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "BK393-202_guppy507_both": { "sampleName": "BK393-202_NDD_both", "experimentType": "TLRS", "fastqFile": [ "BK393-202-ONT-RU-03.guppy507.fail.fastq.gz", "BK393-202-ONT-RU-03.guppy507.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "BK393-202a": { "sampleName": "BK393-202-NDD-GENES", "experimentType": "TLRS", "fastqFile": [ "BK393-202-ONT-RU-03.guppy507.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "BK393-202_guppy507_fail": { "sampleName": "BK393-202_NDD_fail", "experimentType": "TLRS", "fastqFile": [ "BK393-202-ONT-RU-03.guppy507.fail.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "BK540-101": { "sampleName": "BK540-101-NDD-GENES", "experimentType": "TLRS", "fastqFile": [ "BK540-101-ONT-RU-03.guppy507.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.NDD-genes.tsv" }, "M0084": { "sampleName": "M0084-case-DBA-child", "experimentType": "TLRS", "fastqFile": [ "M0084-ONT-RU-01.guppy507.pass.fastq.gz", "M0084-ONT-RU-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.M0084-case-DBA" }, "M0114": { "sampleName": "M0114-case-JS-MACF1", "experimentType": "TLRS", "fastqFile": [ "M0114-ONT-RU-01.guppy507.pass.fastq.gz", "M0114-ONT-RU-02.guppy507.pass.fastq.gz", "M0114-ONT-RU-01.guppy507.fail.fastq.gz", "M0114-ONT-RU-02.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.M0114-M0115-case-MACF" }, "M0115": { "sampleName": "M0115-case-JS-MACF1", "experimentType": "TLRS", "fastqFile": [ "M0115-ONT-RU-01.guppy507.pass.fastq.gz", "M0115-ONT-RU-02.guppy507.pass.fastq.gz", "M0115-ONT-RU-01.guppy507.fail.fastq.gz", "M0115-ONT-RU-02.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.M0114-M0115-case-MACF" }, "M0119": { "sampleName": "M0119-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S119-ONT-RU-01.guppy442.fastq.gz", "S119-ONT-RU-02.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0121": { "sampleName": "M0121-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S121-ONT-RU-01.guppy442.fastq.gz", "S121-ONT-RU-02.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0122": { "sampleName": "M0122-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S122-ONT-RU-01.guppy442.fastq.gz", "S122-ONT-RU-02.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0123": { "sampleName": "M0123-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S123-ONT-RU-01.guppy442.fastq.gz", "S123-ONT-RU-02.guppy442.fastq.gz", "S123-ONT-WGS-01.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0124": { "sampleName": "M0124-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S124-ONT-RU-01.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0125": { "sampleName": "M0125-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S125-ONT-RU-01.guppy442.fastq.gz", "S125-ONT-RU-02.guppy442.fastq.gz", "S125-ONT-RU-03.guppy442.fastq.gz", "S125-ONT-RU-04.guppy442.fastq.gz", "S125-ONT-WGS-01.guppy442.fastq.gz", "S125-ONT-WGS-02.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0126": { "sampleName": "M0126-case-WRN", "experimentType": "TLRS", "fastqFile": [ "S126-ONT-RU-01.guppy442.fastq.gz", "S126-ONT-RU-02.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.tsv" }, "M0143": { "sampleName": "M0143-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S143-ONT-RU-01.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0145": { "sampleName": "M0145-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S145-ONT-RU-01.guppy507.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0146": { "sampleName": "M0146-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S146-ONT-RU-01.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0147": { "sampleName": "M0147-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "M0147-ONT-RU-PSK004-02.guppy507.pass.fastq.gz", "M0147-ONT-RU-PSK004-02.guppy507.fail.fastq.gz", "M0147-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0147-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0148": { "sampleName": "M0148-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S148-ONT-RU-01.guppy442.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0149": { "sampleName": "M0149-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S149-ONT-WGS-01.guppy442.fastq.gz" ], "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0150": { "sampleName": "M0150-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "M0150-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0150-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0151": { "sampleName": "M0151-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S151-ONT-WGS-01.guppy441.fastq.gz" ], "readVer": "guppy441", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0152": { "sampleName": "M0152-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "M0152-ONT-RU-01.guppy507.pass.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0155": { "sampleName": "M0155-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S155-ONT-RU-01.guppy507.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0156": { "sampleName": "M0156-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S156-ONT-WGS-01.guppy441.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy441", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0159": { "sampleName": "M0159-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S159-ONT-RU-01.guppy507.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.M0159tsv" }, "M0160": { "sampleName": "M0160-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S160-ONT-RU-01.guppy442.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0162": { "sampleName": "M0162-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S162-ONT-RU-01.guppy507.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0167": { "sampleName": "M0167-case-WRN", "experimentType": "TLRS", "fastqFile": [ "M0167-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0167-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.WRN.HYDIN.tsv" }, "M0171": { "sampleName": "M0171-case-hemophilia", "experimentType": "TLRS", "fastqFile": [ "S171-ONT-RU-01.guppy442.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy442", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.F8-and-F9.tsv" }, "M0176": { "sampleName": "M0176-case-SCID-TORG64", "experimentType": "TLRS", "fastqFile": [ "M0176-ONT-WGS-01.guppy507.pass.fastq.gz" ], "fast5Path": "[]", "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.M0176-case-SCID-TORG64" }, "M0184": { "sampleName": "M0184-case-NGLY1", "experimentType": "TLRS", "fastqFile": [ "M0184-ONT-RU-LSK110-01.guppy507.fail.fastq.gz", "M0184-ONT-RU-LSK110-01.guppy507.pass.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.M0184.NGLY1" }, "M0189": { "sampleName": "M0189-case-SCN9A-TPP", "experimentType": "TLRS", "fastqFile": [ "M0189-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0189-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/M0189.targets.tsv" }, "M0193": { "sampleName": "M0193-case-AGS-RNASEH2B", "experimentType": "TLRS", "fastqFile": [ "M0193-ONT-RU-LSK110-01.guppy507.pass.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.AGS.expanded" }, "M0194": { "sampleName": "M0194-case-AGS-RNASEH2A", "experimentType": "TLRS", "fastqFile": [ "M0194-ONT-RU-LSK110-01.guppy507.pass.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.AGS.expanded" }, "M0195": { "sampleName": "M0195-case-AGS-RNASEH2A", "experimentType": "TLRS", "fastqFile": [ "M0195-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0195-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.AGS.expanded" }, "M0196": { "sampleName": "M0196-case-AGS-TREX1", "experimentType": "TLRS", "fastqFile": [ "M0196-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0196-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.AGS.expanded" }, "M0197": { "sampleName": "M0197-case-AGS-ADAR", "experimentType": "TLRS", "fastqFile": [ "M0197-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0197-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.AGS.expanded" }, "M0226": { "sampleName": "M0226-case-HYDIN-SCH", "experimentType": "TLRS", "fastqFile": [ "M0226-ONT-RU-LSK110-01.guppy507.pass.fastq.gz", "M0226-ONT-RU-LSK110-01.guppy507.fail.fastq.gz" ], "readVer": "guppy507", "targetRegions": "/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/targetFiles/targets.M0226.HYDIN" }, "KC120-220-320": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr17", "5000000", "33000000" ] ], "fastqFile": [ "KC120-ONT-RU-01.guppy440.fastq.gz", "KC120-ONT-RU-02.guppy440.fastq.gz", "KC220-ONT-RU-01.guppy440.fastq.gz", "KC220-ONT-RU-02.guppy440.fastq.gz", "KC320-ONT-RU-01.guppy440.fastq.gz" ], "fast5Path": " ID = \"KC120-220-320\"\n sampleName = \"KC120-220-320-mouse-unknown\"\n fastqFile = [\"KC120-ONT-RU-01.guppy440.fastq.gz\",\"KC120-ONT-RU-02.guppy440.fastq.gz\",\"KC220-ONT-RU-01.guppy440.fastq.gz\",\"KC220-ONT-RU-02.guppy440.fastq.gz\",\"KC320-ONT-RU-01.guppy440.fastq.gz", "sampleName": "KC120-220-320-mouse-unknown", "readVer": "guppy440" }, "KC220": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr17", "5000000", "33000000" ] ], "fastqFile": [ "KC220-ONT-RU-01.guppy4011.fastq.gz", "KC220-ONT-RU-02.guppy4011.fastq.gz" ], "fast5Path": " ID = \"KC220\"\n sampleName = \"KC220-mouse-unknown\"\n fastqFile = [\"KC220-ONT-RU-01.guppy4011.fastq.gz\",\"KC220-ONT-RU-02.guppy4011.fastq.gz", "sampleName": "KC220-mouse-unknown", "readVer": "guppy4011" }, "KC420": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr17", "5000000", "33000000" ] ], "fastqFile": [ "KC420-ONT-RU-01.guppy440.fastq.gz" ], "fast5Path": " ID = \"KC420\"\n sampleName = \"KC420-mouse-control\"\n fastqFile = [\"KC420-ONT-RU-01.guppy440.fastq.gz", "sampleName": "KC420-mouse-control", "readVer": "guppy440" }, "FiberSeq-01": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "FiberSeq-ONT-WGS-01.guppy442.fastq.gz" ], "fast5Path": " ID = \"FiberSeq-01\"\n sampleName = \"FiberSeq-WGS-01\"\n fastqFile = [\"FiberSeq-ONT-WGS-01.guppy442.fastq.gz", "sampleName": "FiberSeq-WGS-01", "readVer": "guppy442" }, "CF923-02": { "fastqFile": [ "CF923-02.guppy507.pass.fastq.gz" ], "fast5Path": " ID = \"CF923-02\"\n sampleName = \"CF923-02\"\n fastqFile = [\"CF923-02.guppy507.pass.fastq.gz", "sampleName": "CF923-02", "readVer": "guppy507" }, "AB920": { "genesTargeted": [ [ "[" ], [ "chr15TargetRegion", "chr15", "92000000", "92500000" ] ], "fastqFile": [ "AB920-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"AB920\"\n sampleName = \"AB920-proband-alphaSatIns\"\n fastqFile = [\"AB920-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "AB920-proband-alphaSatIns", "readVer": "guppy4011" }, "AD511": { "genesTargeted": [ [ "[" ], [ "chr15TargetRegion", "chr15", "92000000", "92500000" ] ], "fastqFile": [ "AD511-ONT-RU-01.guppy4011.fastq.gz", "AD511-ONT-RU-02.guppy4011.fastq.gz", "AD511-ONT-RU-03.guppy4011.fastq.gz" ], "fast5Path": " ID = \"AD511\"\n sampleName = \"AD511-mom-alphaSatIns\"\n fastqFile = [\"AD511-ONT-RU-01.guppy4011.fastq.gz\",\"AD511-ONT-RU-02.guppy4011.fastq.gz\",\"AD511-ONT-RU-03.guppy4011.fastq.gz", "sampleName": "AD511-mom-alphaSatIns", "readVer": "guppy4011" }, "AD512": { "genesTargeted": [ [ "[" ], [ "chr15TargetRegion", "chr15", "92000000", "92500000" ] ], "fastqFile": [ "AD512-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"AD512\"\n sampleName = \"AD512-dad-alphaSatIns\"\n fastqFile = [\"AD512-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "AD512-dad-alphaSatIns", "readVer": "guppy4011" }, "M0180_lib2_guppy507_fast": { "fastqFile": [ "M0180_lib2.guppy507.dna_r9.4.1_450bps_fast.cfg.fail.fastq.gz", "M0180_lib2.guppy507.dna_r9.4.1_450bps_fast.cfg.pass.fastq.gz" ], "sampleName": "M0180_lib2_guppy507_fast", "readVer": "guppy507" }, "M0180_lib2_guppy507_hac": { "fastqFile": [ "M0180_lib2.guppy507.dna_r9.4.1_450bps_hac.cfg.fail.fastq.gz", "M0180_lib2.guppy507.dna_r9.4.1_450bps_hac.cfg.pass.fastq.gz" ], "sampleName": "M0180_lib2_guppy507_hac", "readVer": "guppy507" }, "BK393-202b": { "fastqFile": [ "BK393-202-ONT-RU-02.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK393-202b\"\n sampleName = \"BK393-202-ONT-RU-GENIC-REGIONS\"\n fastqFile = [\"BK393-202-ONT-RU-02.guppy4011.fastq.gz", "sampleName": "BK393-202-ONT-RU-GENIC-REGIONS", "readVer": "guppy4011" }, "BK540-101-ONT-RU-NDD-GENES": { "fastqFile": [ "BK540-101-ONT-RU-02.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK540-101-ONT-RU-NDD-GENES\"\n sampleName = \"BK540-101-ONT-RU-NDD-GENES\"\n fastqFile = [\"BK540-101-ONT-RU-02.guppy4011.fastq.gz", "sampleName": "BK540-101-ONT-RU-NDD-GENES", "readVer": "guppy4011" }, "BK540-101-ONT-RU-EXON-ODD": { "fastqFile": [ "BK540-101-ONT-RU-EXON-ODD.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK540-101-ONT-RU-EXON-ODD\"\n sampleName = \"BK540-101-ONT-RU-EXON-ODD\"\n fastqFile = [\"BK540-101-ONT-RU-EXON-ODD.guppy4011.fastq.gz", "sampleName": "BK540-101-ONT-RU-EXON-ODD", "readVer": "guppy4011" }, "BK393-202-ONT-RU-EXON-ALL": { "fastqFile": [ "BK393-202-ONT-RU-EXON-ALL.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK393-202-ONT-RU-EXON-ALL\"\n sampleName = \"BK393-202-ONT-RU-EXON-ALL\"\n fastqFile = [\"BK393-202-ONT-RU-EXON-ALL.guppy4011.fastq.gz", "sampleName": "BK393-202-ONT-RU-EXON-ALL", "readVer": "guppy4011" }, "BK397-101-cnv-16p11.2a": { "fastqFile": [ "BK397-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK397-101-cnv-16p11.2a\"\n sampleName = \"BK397-101-cnv-16p11.2\"\n fastqFile = [\"BK397-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK397-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK397-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK397-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK397-101-cnv-16p11.2\"\n sampleName = \"BK397-101-cnv-16p11.2\"\n fastqFile = [\"BK397-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK397-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK397-201-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK397-201-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK397-201-cnv-16p11.2\"\n sampleName = \"BK397-201-cnv-16p11.2\"\n fastqFile = [\"BK397-201-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK397-201-cnv-16p11.2", "readVer": "guppy4011" }, "BK397-202-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK397-202-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK397-202-cnv-16p11.2\"\n sampleName = \"BK397-202-cnv-16p11.2\"\n fastqFile = [\"BK397-202-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK397-202-cnv-16p11.2", "readVer": "guppy4011" }, "BK409-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK409-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK409-101-cnv-16p11.2\"\n sampleName = \"BK409-101-cnv-16p11.2\"\n fastqFile = [\"BK409-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK409-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK433-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK433-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK433-101-cnv-16p11.2\"\n sampleName = \"BK433-101-cnv-16p11.2\"\n fastqFile = [\"BK433-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK433-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK464-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK464-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK464-101-cnv-16p11.2\"\n sampleName = \"BK464-101-cnv-16p11.2\"\n fastqFile = [\"BK464-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK464-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK479-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK479-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK479-101-cnv-16p11.2\"\n sampleName = \"BK479-101-cnv-16p11.2\"\n fastqFile = [\"BK479-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK479-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK489-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29000000", "30500000" ] ], "fastqFile": [ "BK489-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK489-101-cnv-16p11.2\"\n sampleName = \"BK489-101-cnv-16p11.2\"\n fastqFile = [\"BK489-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK489-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK491-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "analysisRegion": [ [ "targetRegion", "chr16", "29500000", "30500000" ] ], "fastqFile": [ "BK491-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK491-101-cnv-16p11.2\"\n sampleName = \"BK491-101-cnv-16p11.2\"\n fastqFile = [\"BK491-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK491-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK495-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "fastqFile": [ "BK495-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK495-101-cnv-16p11.2\"\n sampleName = \"BK495-101-cnv-16p11.2\"\n fastqFile = [\"BK495-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK495-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK495-102-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "fastqFile": [ "BK495-102-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK495-102-cnv-16p11.2\"\n sampleName = \"BK495-102-cnv-16p11.2\"\n fastqFile = [\"BK495-102-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK495-102-cnv-16p11.2", "readVer": "guppy4011" }, "BK570-101-cnv-16p11.2": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "fastqFile": [ "BK570-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK570-101-cnv-16p11.2\"\n sampleName = \"BK570-101-cnv-16p11.2\"\n fastqFile = [\"BK570-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK570-101-cnv-16p11.2", "readVer": "guppy4011" }, "BK430-103-cnv-16p11.2-dup": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "26500000", "35300000" ] ], "fastqFile": [ "BK430-103-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK430-103-cnv-16p11.2-dup\"\n sampleName = \"BK430-103-cnv-16p11.2-dup\"\n fastqFile = [\"BK430-103-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK430-103-cnv-16p11.2-dup", "readVer": "guppy4011" }, "BK482-101-cnv-1q21.1-dup": { "genesTargeted": [ [ "[" ], [ "chr1target", "chr1", "140000000", "155000000" ] ], "fastqFile": [ "BK482-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK482-101-cnv-1q21.1-dup\"\n sampleName = \"BK482-101-cnv-1q21.1-dup\"\n fastqFile = [\"BK482-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK482-101-cnv-1q21.1-dup", "readVer": "guppy4011" }, "BK487-101-cnv-1q21-del": { "genesTargeted": [ [ "[" ], [ "chr1target", "chr1", "140000000", "155000000" ] ], "fastqFile": [ "BK487-101-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK487-101-cnv-1q21-del\"\n sampleName = \"BK487-101-cnv-1q21-del\"\n fastqFile = [\"BK487-101-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK487-101-cnv-1q21-del", "readVer": "guppy4011" }, "BK294-03-cnv-22q11.22-dup": { "genesTargeted": [ [ "[" ], [ "chr22target", "chr22", "17500000", "50818000" ] ], "fastqFile": [ "BK294-03-ONT-RU-01.guppy4011.fastq.gz", "BK294-03-ONT-RU-02.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK294-03-cnv-22q11.22-dup\"\n sampleName = \"BK294-03-cnv-22q11.22-dup\"\n fastqFile = [\"BK294-03-ONT-RU-01.guppy4011.fastq.gz\",\"BK294-03-ONT-RU-02.guppy4011.fastq.gz", "sampleName": "BK294-03-cnv-22q11.22-dup", "readVer": "guppy4011" }, "BK144-03-cnv-22q13.3-del": { "genesTargeted": [ [ "[" ], [ "chr22target", "chr22", "17500000", "50818000" ] ], "fastqFile": [ "BK144-03-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK144-03-cnv-22q13.3-del\"\n sampleName = \"BK144-03-cnv-22q13.3-del\"\n fastqFile = [\"BK144-03-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK144-03-cnv-22q13.3-del", "readVer": "guppy4011" }, "BK506-03-cnv-5p15.33-del": { "genesTargeted": [ [ "[" ], [ "chr5target", "chr5", "1", "8000000" ] ], "fastqFile": [ "BK506-03-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK506-03-cnv-5p15.33-del\"\n sampleName = \"BK506-03-cnv-5p15.33-del\"\n fastqFile = [\"BK506-03-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK506-03-cnv-5p15.33-del", "readVer": "guppy4011" }, "BK180-03-cnv-15q11-dup": { "genesTargeted": [ [ "[" ], [ "chr15target", "chr15", "20000000", "35000000" ], [ "chr1target", "chr1", "24000000", "30000000" ] ], "fastqFile": [ "BK180-03-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK180-03-cnv-15q11-dup\"\n sampleName = \"BK180-03-cnv-15q11-dup\"\n fastqFile = [\"BK180-03-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK180-03-cnv-15q11-dup", "readVer": "guppy4011" }, "BK364-03-cnv-1p36.11-dup": { "genesTargeted": [ [ "[" ], [ "chr15target", "chr15", "20000000", "35000000" ], [ "chr1target", "chr1", "24000000", "30000000" ] ], "fastqFile": [ "BK364-03-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"BK364-03-cnv-1p36.11-dup\"\n sampleName = \"BK364-03-cnv-1p36.11-dup\"\n fastqFile = [\"BK364-03-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "BK364-03-cnv-1p36.11-dup", "readVer": "guppy4011" }, "9096-3": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "9096-3-ONT-WGS-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"9096-3\"\n sampleName = \"9096-3-case-RES-affected\"\n fastqFile = [\"9096-3-ONT-WGS-01.guppy4011.fastq.gz", "sampleName": "9096-3-case-RES-affected", "readVer": "guppy4011" }, "9096-4": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "9096-4-ONT-WGS-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"9096-4\"\n sampleName = \"9096-4-case-RES-unaffected\"\n fastqFile = [\"9096-4-ONT-WGS-01.guppy4011.fastq.gz", "sampleName": "9096-4-case-RES-unaffected", "readVer": "guppy4011" }, "S001": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S001-ONT-WGS-01.guppy361.fastq.gz" ], "fast5Path": " ID = \"S001\"\n sampleName = \"S001-case-unknown\"\n fastqFile = [\"S001-ONT-WGS-01.guppy361.fastq.gz", "sampleName": "S001-case-unknown", "readVer": "guppy4011" }, "S002": { "genesTargeted": [ [ "[" ], [ "ALMS1", "chr2", "73200000", "73800000" ] ], "fastqFile": [ "S002-ONT-RU-01.guppy4011.fastq.gz" ], "fast5Path": " ID = \"S002\"\n sampleName = \"S002-case-ALMS1\"\n fastqFile = [\"S002-ONT-RU-01.guppy4011.fastq.gz", "sampleName": "S002-case-ALMS1", "readVer": "guppy4011" }, "S003": { "genesTargeted": [ [ "[" ], [ "NPHP4", "chr1", "5762810", "6092425" ] ], "fastqFile": [ "S003-ONT-RU-01.guppy4011.fastq.gz", "S003-ONT-RU-02.guppy4011.fastq.gz" ], "fast5Path": " ID = \"S003\"\n sampleName = \"S003-case-NPHP4\"\n fastqFile = [\"S003-ONT-RU-01.guppy4011.fastq.gz\", \"S003-ONT-RU-02.guppy4011.fastq.gz", "sampleName": "S003-case-NPHP4", "readVer": "guppy4011" }, "S004": { "genesTargeted": [ [ "[" ], [ "VARS2", "chr6", "30912208", "30928459" ] ], "fastqFile": [ "S004-ONT-RU-01.guppy440.fastq.gz", "S004-ONT-RU-02.guppy440.fastq.gz", "S004-ONT-RU-03.guppy440.fastq.gz", "S004-ONT-RU-04.guppy440.fastq.gz" ], "fast5Path": " ID = \"S004\"\n sampleName = \"S004-case-VARS2\"\n fastqFile = [\"S004-ONT-RU-01.guppy440.fastq.gz\", \"S004-ONT-RU-02.guppy440.fastq.gz\", \"S004-ONT-RU-03.guppy440.fastq.gz\",\"S004-ONT-RU-04.guppy440.fastq.gz", "sampleName": "S004-case-VARS2", "readVer": "guppy440" }, "S005-guppy361": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S005-ONT-RU-01.guppy361.fastq.gz", "S005-ONT-RU-02.guppy361.fastq.gz", "S005-ONT-RU-03.guppy361.fastq.gz" ], "fast5Path": " ID = \"S005-guppy361\"\n sampleName = \"S005-case-unknown-guppy361\"\n fastqFile = [\"S005-ONT-RU-01.guppy361.fastq.gz\",\"S005-ONT-RU-02.guppy361.fastq.gz\",\"S005-ONT-RU-03.guppy361.fastq.gz", "sampleName": "S005-case-unknown-guppy361", "readVer": "guppy361" }, "S005-guppy4011": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S005-ONT-RU-01.guppy4011.fastq.gz", "S005-ONT-RU-02.guppy4011.fastq.gz" ], "fast5Path": " ID = \"S005-guppy4011\"\n sampleName = \"S005-case-unknown-guppy4011\"\n fastqFile = [\"S005-ONT-RU-01.guppy4011.fastq.gz\",\"S005-ONT-RU-02.guppy4011.fastq.gz", "sampleName": "S005-case-unknown-guppy4011", "readVer": "guppy4011" }, "S005-guppy440": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S005-ONT-RU-01.guppy440.fastq.gz", "S005-ONT-RU-02.guppy440.fastq.gz" ], "fast5Path": " ID = \"S005-guppy440\"\n sampleName = \"S005-case-unknown-guppy440\"\n fastqFile = [\"S005-ONT-RU-01.guppy440.fastq.gz\",\"S005-ONT-RU-02.guppy440.fastq.gz", "sampleName": "S005-case-unknown-guppy440", "readVer": "guppy440" }, "S005-guppy440-bonito031": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S005-ONT-RU-01.guppy440.bonito031.fastq.gz", "S005-ONT-RU-02.guppy440.bonito031.fastq.gz" ], "fast5Path": " ID = \"S005-guppy440-bonito031\"\n sampleName = \"S005-case-unknown-guppy440-bonito031\"\n fastqFile = [\"S005-ONT-RU-01.guppy440.bonito031.fastq.gz\",\"S005-ONT-RU-02.guppy440.bonito031.fastq.gz", "sampleName": "S005-case-unknown-guppy440-bonito031", "readVer": "guppy440-bonito031" }, "S005-WGS": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "SID103027_S005_RW0609_082620_failed.fastq.gz", "SID103027_S005_RW0609_082620_LiveGuppy.fastq.gz" ], "fast5Path": " ID = \"S005-WGS\"\n sampleName = \"S005-case-unknown-WGS\"\n fastqFile = [\"SID103027_S005_RW0609_082620_failed.fastq.gz\",\"SID103027_S005_RW0609_082620_LiveGuppy.fastq.gz", "sampleName": "S005-case-unknown-WGS", "readVer": "guppy4011" }, "S005-WGS-RU": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "SID103027_S005_RW0609_082620_LiveGuppy.fastq.gz", "SID103027_S005_RW0609_082620_failed.fastq.gz", "S005-ONT-RU-01.guppy361.fastq.gz", "S005-ONT-RU-02.guppy361.fastq.gz", "S005-ONT-RU-03.guppy361.fastq.gz", "S005-ONT-RU-04.guppy4011.fastq.gz", "S005-ONT-RU-05.guppy4011.fastq.gz", "S005-ONT-RU-06.guppy4011.fastq.gz" ], "fast5Path": " ID = \"S005-WGS-RU\"\n sampleName = \"S005-case-unknown-WGS-RU\"\n fastqFile = [\"SID103027_S005_RW0609_082620_LiveGuppy.fastq.gz\",\"SID103027_S005_RW0609_082620_failed.fastq.gz\",\"S005-ONT-RU-01.guppy361.fastq.gz\",\"S005-ONT-RU-02.guppy361.fastq.gz\",\"S005-ONT-RU-03.guppy361.fastq.gz\",\"S005-ONT-RU-04.guppy4011.fastq.gz\",\"S005-ONT-RU-05.guppy4011.fastq.gz\",\"S005-ONT-RU-06.guppy4011.fastq.gz", "sampleName": "S005-case-unknown-WGS-RU", "readVer": "guppy4011" }, "S008": { "genesTargeted": [ [ "[" ], [ "HPRT1", "chrX", "134360165", "134600668" ] ], "fastqFile": [ "S008-ONT-RU-01.guppy442.fastq.gz", "S008-ONT-RU-02.guppy442.fastq.gz", "S008-ONT-RU-03.guppy442.fastq.gz" ], "fast5Path": " ID = \"S008\"\n sampleName = \"S008-case-HPRT1\"\n fastqFile = [\"S008-ONT-RU-01.guppy442.fastq.gz\",\"S008-ONT-RU-02.guppy442.fastq.gz\", \"S008-ONT-RU-03.guppy442.fastq.gz", "sampleName": "S008-case-HPRT1", "readVer": "guppy442" }, "S009": { "genesTargeted": [ [ "[" ], [ "DMD", "chrX", "31019219", "33439460" ] ], "fastqFile": [ "S009-ONT-RU-01.guppy361.fastq.gz", "S009-ONT-RU-02.guppy361.fastq.gz", "S009-ONT-RU-03.guppy361.fastq.gz", "S009-ONT-RU-04.guppy361.fastq.gz", "S009-ONT-RU-05.guppy4011.fastq.gz", "S009-ONT-RU-06.guppy4011.fastq.gz" ], "fast5Path": " ID = \"S009\"\n sampleName = \"S009-case-DMD\"\n fastqFile = [\"S009-ONT-RU-01.guppy361.fastq.gz\", \"S009-ONT-RU-02.guppy361.fastq.gz\", \"S009-ONT-RU-03.guppy361.fastq.gz\",\"S009-ONT-RU-04.guppy361.fastq.gz\",\"S009-ONT-RU-05.guppy4011.fastq.gz\",\"S009-ONT-RU-06.guppy4011.fastq.gz", "sampleName": "S009-case-DMD", "readVer": "guppy4011" }, "S010": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S010-ONT-WGS-01.guppy4011.fastq.gz" ], "sampleName": "S010-case-unknown", "readVer": "guppy4011" }, "S011": { "genesTargeted": [ [ "[" ], [ "ATXN3", "chr14", "92066011", "92076011" ], [ "ATXN8OS", "chr13", "70134384", "70144384" ] ], "fastqFile": [ "S011-ONT-RU-01.guppy361.fastq.gz", "S011-ONT-RU-02.guppy361.fastq.gz", "S011-ONT-RU-03.guppy4011.fastq.gz", "S011-ONT-RU-04.guppy4011.fastq.gz", "S011-ONT-RU-05.guppy4011.fastq.gz", "S011-ONT-WGS-01.guppy361.fastq.gz" ], "sampleName": "S011-ATXN3-ATXN8-control", "readVer": "guppy4011" }, "S013": { "genesTargeted": [ [ "[" ], [ "HPS1", "chr10", "98316193", "98546963" ] ], "fastqFile": [ "S013-ONT-RU-01.guppy442.fastq.gz", "S013-ONT-RU-02.guppy442.fastq.gz" ], "sampleName": "S013-case-HPS1", "readVer": "guppy442" }, "S014": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr16", "154471919", "159633106" ] ], "fastqFile": [ "S014-ONT-RU-03.guppy4011.fastq.gz" ], "sampleName": "S014-control-CNV", "readVer": "guppy4011" }, "S016": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr5", "11100000", "12100000" ] ], "fastqFile": [ "S016-ONT-RU-03.guppy442.fastq.gz" ], "sampleName": "S016-cnv-CTNND2", "readVer": "guppy442" }, "S018": { "genesTargeted": [ [ "[" ], [ "PAH", "chr12", "102736889", "103058441" ], [ "SPR", "chr2", "72787408", "72992158" ], [ "QDPR", "chr4", "17386393", "17612234" ], [ "PTS", "chr11", "112126428", "112333973" ], [ "PCBD1", "chr10", "70782280", "70988565" ], [ "GCH1", "chr14", "54742005", "55002826" ], [ "DNAJC12", "chr10", "67696665", "67938188" ] ], "fastqFile": [ "S018-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S018-case-PAH", "readVer": "guppy440" }, "S019": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S019-ONT-WGS-01.guppy4011.fastq.gz" ], "sampleName": "S019-case-unknown", "readVer": "guppy4011" }, "S020": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr2", "1", "36300000" ], [ "targetRegion", "chr10", "41700000", "80320091" ], [ "targetRegion", "chr4", "51800000", "100000000" ], [ "targetRegion", "chr14", "18000000", "50000000" ] ], "fastqFile": [ "S020-ONT-RU-01.guppy4011.fastq.gz", "S020-ONT-RU-02.guppy4011.fastq.gz", "S020-ONT-RU-03.guppy4011.fastq.gz", "S020-ONT-RU-04.guppy4011.fastq.gz" ], "sampleName": "S020-control-CNV-chr2-4-10-14", "readVer": "guppy4011" }, "S020-target1-only": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S020-ONT-RU-02.guppy4011.fastq.gz", "S020-ONT-RU-03.guppy4011.fastq.gz" ], "sampleName": "S020-control-CNV-target1-only", "readVer": "guppy4011" }, "S020-target2-only": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S020-ONT-RU-04.guppy4011.fastq.gz" ], "sampleName": "S020-control-CNV-target2-only", "readVer": "guppy4011" }, "S021": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr8", "1", "145138636" ] ], "fastqFile": [ "S021-ONT-RU-01.guppy4011.fastq.gz", "S021-ONT-RU-02.guppy4011.fastq.gz", "S021-ONT-RU-03.guppy4011.fastq.gz" ], "sampleName": "S021-control-CNV-8p", "readVer": "guppy4011" }, "S022": { "genesTargeted": [ [ "[" ], [ "targetRegion4", "chr4", "162611564", "190000000" ], [ "targetRegion15", "chr15", "22000000", "23500000" ] ], "fastqFile": [ "S022-ONT-RU-01.guppy4011.fastq.gz", "S022-ONT-RU-02.guppy4011.fastq.gz", "S022-ONT-RU-03.guppy4011.fastq.gz" ], "sampleName": "S022-control-CNV-4q", "readVer": "guppy4011" }, "S023": { "genesTargeted": [ [ "[" ], [ "18pTarget", "chr18", "1", "5000000" ], [ "18qTarget", "chr18", "45000000", "80373285" ] ], "fastqFile": [ "S023-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S023-control-CNV-ring18", "readVer": "guppy4011" }, "S025": { "genesTargeted": [ [ "[" ], [ "ABCA4", "chr1", "93980000", "94150000" ] ], "fastqFile": [ "S025-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S025-case-ABCA4", "readVer": "guppy4011" }, "S035": { "genesTargeted": [ [ "[" ], [ "chr8target", "chr8", "130000000", "145138636" ], [ "chr16target", "chr16", "10000000", "20000000" ] ], "fastqFile": [ "S035-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S035-control-CNV-8q-16p", "readVer": "guppy4011" }, "S036": { "genesTargeted": [ [ "[" ], [ "targetRegion", "chr10", "20000000", "60000000" ] ], "fastqFile": [ "S036-ONT-RU-01.guppy4011.fastq.gz", "S036-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S036-control-CNV-10q", "readVer": "guppy4011" }, "S036-target1-only": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S036-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S036-control-CNV-10q-target1", "readVer": "guppy4011" }, "S036-target2-only": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S036-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S036-control-CNV-10q-target2", "readVer": "guppy4011" }, "S037": { "genesTargeted": [ [ "[" ], [ "LRP12", "chr8", "104389000", "104689000" ], [ "GIPC1", "chr19", "14400000", "14600000" ], [ "NUTM2B-AS1", "chr10", "79700000", "79900000" ], [ "NBPF19", "chr1", "149400000", "149600000" ], [ "ATN1", "chr12", "6906740", "6966740" ], [ "AR", "chrX", "67515317", "67575317" ], [ "ARX", "chrX", "24983654", "25043654" ], [ "ATXN1", "chr6", "16297634", "16357634" ], [ "ATXN10", "chr22", "45765355", "45825355" ], [ "ATXN2", "chr12", "111568950", "111628950" ], [ "ATXN3", "chr14", "92041011", "92101011" ], [ "ATXN7", "chr3", "63882685", "63942685" ], [ "ATXN8OS/ATXN8", "chr13", "70109384", "70169384" ], [ "BEAN1/TK2", "chr16", "66460399", "66520399" ], [ "C9orf72", "chr9", "27543485", "27603485" ], [ "CACNA1A", "chr19", "13177859", "13237859" ], [ "CSTB", "chr21", "43746443", "43806443" ], [ "DAB1", "chr1", "57337044", "57397044" ], [ "DMPK", "chr19", "45740205", "45800205" ], [ "DRPLA/ATN1", "chr12", "6906717", "6966717" ], [ "FMR1", "chrX", "147882037", "147942037" ], [ "FMR2", "chrX", "148470639", "148530639" ], [ "FXN", "chr9", "69007285", "69067285" ], [ "HTT", "chr4", "3044877", "3104877" ], [ "JPH3", "chr16", "87574283", "87634283" ], [ "NOP56", "chr20", "2622733", "2682733" ], [ "PABPN1", "chr14", "23281473", "23361473" ], [ "PPP2R2B", "chr5", "146848728", "146908728" ], [ "RFC1", "chr4", "39318425", "39378425" ], [ "SAMD12", "chr8", "118336816", "118396816" ], [ "TBP", "chr6", "170531907", "170591907" ], [ "TCF4", "chr18", "55556154", "55616154" ], [ "ZNF9/CNBP", "chr3", "129142577", "129202577" ], [ "DMD", "chrX", "32525000", "32585000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S037-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S037-case-UDN1", "readVer": "guppy4011" }, "S038": { "genesTargeted": [ [ "[" ], [ "LRP12", "chr8", "104389000", "104689000" ], [ "GIPC1", "chr19", "14400000", "14600000" ], [ "NUTM2B-AS1", "chr10", "79700000", "79900000" ], [ "NBPF19", "chr1", "149400000", "149600000" ], [ "ATN1", "chr12", "6906740", "6966740" ], [ "AR", "chrX", "67515317", "67575317" ], [ "ARX", "chrX", "24983654", "25043654" ], [ "ATXN1", "chr6", "16297634", "16357634" ], [ "ATXN10", "chr22", "45765355", "45825355" ], [ "ATXN2", "chr12", "111568950", "111628950" ], [ "ATXN3", "chr14", "92041011", "92101011" ], [ "ATXN7", "chr3", "63882685", "63942685" ], [ "ATXN8OS/ATXN8", "chr13", "70109384", "70169384" ], [ "BEAN1/TK2", "chr16", "66460399", "66520399" ], [ "C9orf72", "chr9", "27543485", "27603485" ], [ "CACNA1A", "chr19", "13177859", "13237859" ], [ "CSTB", "chr21", "43746443", "43806443" ], [ "DAB1", "chr1", "57337044", "57397044" ], [ "DMPK", "chr19", "45740205", "45800205" ], [ "DRPLA/ATN1", "chr12", "6906717", "6966717" ], [ "FMR1", "chrX", "147882037", "147942037" ], [ "FMR2", "chrX", "148470639", "148530639" ], [ "FXN", "chr9", "69007285", "69067285" ], [ "HTT", "chr4", "3044877", "3104877" ], [ "JPH3", "chr16", "87574283", "87634283" ], [ "NOP56", "chr20", "2622733", "2682733" ], [ "PABPN1", "chr14", "23281473", "23361473" ], [ "PPP2R2B", "chr5", "146848728", "146908728" ], [ "RFC1", "chr4", "39318425", "39378425" ], [ "SAMD12", "chr8", "118336816", "118396816" ], [ "TBP", "chr6", "170531907", "170591907" ], [ "TCF4", "chr18", "55556154", "55616154" ], [ "ZNF9/CNBP", "chr3", "129142577", "129202577" ], [ "DMD", "chrX", "32525000", "32585000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S038-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S038-case-UDN1", "readVer": "guppy4011" }, "S039": { "genesTargeted": [ [ "[" ], [ "FMR1", "chrX", "147500000", "148500000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S039-ONT-RU-01.guppy4011.fastq.gz", "S039-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S039-control-FMR1", "readVer": "guppy4011" }, "S040": { "genesTargeted": [ [ "[" ], [ "FXN", "chr9", "68000000", "70000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S040-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S040-control-FXN", "readVer": "guppy4011" }, "S041": { "genesTargeted": [ [ "[" ], [ "FXN", "chr9", "68000000", "70000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S041-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S041-control-FXN", "readVer": "guppy4011" }, "S042": { "genesTargeted": [ [ "[" ], [ "XYLT1", "chr16", "17000000", "17800000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S042-ONT-RU-02.guppy4011.fastq.gz", "S042-ONT-RU-03.guppy4011.fastq.gz" ], "sampleName": "S042-control-XYLT1", "readVer": "guppy4011" }, "S043": { "genesTargeted": [ [ "[" ], [ "XYLT1", "chr16", "17000000", "17800000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S043-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S043-control-XYLT1", "readVer": "guppy4011" }, "S044": { "genesTargeted": [ [ "[" ], [ "DMD", "chrX", "31000000", "33500000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S044-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S044-case-DMD-brother", "readVer": "guppy4011" }, "S045": { "genesTargeted": [ [ "[" ], [ "DMD", "chrX", "31000000", "33500000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S045-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S045-case-DMD-mom", "readVer": "guppy4011" }, "S046": { "genesTargeted": [ [ "[" ], [ "chr4target", "chr4", "180000000", "190214555" ], [ "chr15target", "chr15", "90000000", "101991189" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S046-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S046-cnv-4q-15q", "readVer": "guppy4011" }, "S047": { "genesTargeted": [ [ "[" ], [ "AGL", "chr1", "98000000", "102000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S047-ONT-RU-01.guppy442.fastq.gz" ], "sampleName": "S047-case-AGL", "readVer": "guppy442" }, "S048": { "genesTargeted": [ [ "[" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S048-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S048-Navonil-70CRR", "readVer": "guppy4011" }, "S049": { "genesTargeted": [ [ "[" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S049-ONT-RU-01.guppy4011.fastq.gz", "S049-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S049-Navonil-189.4", "readVer": "guppy4011" }, "S050": { "genesTargeted": [ [ "[" ], [ "XYLT1", "chr16", "17000000", "17800000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S050-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S050-control-04-02-XYLT1", "readVer": "guppy4011" }, "S051": { "genesTargeted": [ [ "[" ], [ "XYLT1", "chr16", "17000000", "17800000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S051-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S051-control-04-03-XYLT1", "readVer": "guppy4011" }, "S052": { "genesTargeted": [ [ "[" ], [ "XYLT1", "chr16", "17000000", "17800000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S052-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S052-control-06-02-XYLT1", "readVer": "guppy4011" }, "S053": { "genesTargeted": [ [ "[" ], [ "XYLT1", "chr16", "17000000", "17800000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S053-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S053-control-06-03-XYLT1", "readVer": "guppy4011" }, "S056": { "genesTargeted": [ [ "[" ], [ "WDR19", "chr4", "36000000", "42000000" ], [ "BBS5", "chr2", "167000000", "172000000" ], [ "TULP1", "chr6", "33000000", "38000000" ], [ "DNAI1", "chr9", "32000000", "37000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S056-ONT-RU-01.guppy442.fastq.gz" ], "sampleName": "S056-case-WDR19", "readVer": "guppy442" }, "S057": { "genesTargeted": [ [ "[" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S057-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S057-case-multipleAneurysms", "readVer": "guppy4011" }, "S058": { "genesTargeted": [ [ "[" ], [ "MEFV", "chr16", "1000000", "5000000" ] ], "fastqFile": [ "S058-ONT-RU-01.guppy440.bonito031.fastq.gz", "S058-ONT-RU-02.guppy440.bonito031.fastq.gz", "S058-ONT-RU-03.guppy440.bonito031.fastq.gz" ], "sampleName": "S058-case-FMF", "readVer": "guppy440" }, "S059": { "genesTargeted": [ [ "[" ], [ "MEFV", "chr16", "1000000", "5000000" ], [ "SCARF2", "chr22", "18000000", "22000000" ], [ "ABL1", "chr9", "129000000", "133000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S059-ONT-RU-01.guppy440.fastq.gz", "S059-ONT-RU-02.guppy440.fastq.gz" ], "sampleName": "S059-case-VDEGS", "readVer": "guppy440" }, "13412-fa": { "genesTargeted": [ [ "[" ], [ "DMD", "chrX", "31019219", "33439460" ] ], "analysisRegion": [ [] ], "fastqFile": [ "13412-fa-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "13412-fa-DMDexpansion", "readVer": "guppy4011" }, "S060": { "genesTargeted": [ [ "[" ], [ "chr17target", "chr17", "65000000", "80000000" ], [ "chr12target", "chr12", "45000000", "65000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S060-ONT-RU-01.guppy4011.fastq.gz", "S060-ONT-RU-02.guppy4011.fastq.gz", "S060-ONT-RU-03.guppy4011.fastq.gz" ], "sampleName": "S060-inv-SOX9", "readVer": "guppy4011" }, "S061": { "genesTargeted": [ [ "[" ], [ "XECDtarget", "chrX", "110000000", "140000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S061-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S061-case-XECD", "readVer": "guppy4011" }, "S062": { "genesTargeted": [ [ "[" ], [ "XECDtarget", "chrX", "110000000", "140000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S062-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S062-case-XECD", "readVer": "guppy4011" }, "S063": { "genesTargeted": [ [ "[" ], [ "BRCA1", "chr17", "42000000", "44000000" ], [ "BRCA2", "chr13", "31500000", "33500000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S063-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S063-case-BRCA1", "readVer": "guppy4011" }, "S069-genic": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S069-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S069-case-genicRegions", "readVer": "guppy4011" }, "S069-Cas9": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S069-ONT-Cas9-01.guppy442.fastq.gz" ], "sampleName": "S069-case-Cas9", "readVer": "guppy442" }, "S069": { "genesTargeted": [ [ "[" ], [ "CD27", "chr12", "6244867", "6651718" ], [ "CR2", "chr1", "207254300", "207689895" ], [ "CTLA4", "chr2", "203667771", "204073965" ], [ "ICOS", "chr2", "203736763", "204161577" ], [ "IL21", "chr4", "122410108", "122821066" ], [ "IL21R", "chr16", "27202162", "27652043" ], [ "LRBA", "chr4", "150064435", "151215727" ], [ "NFKB2", "chr10", "102194110", "102602529" ], [ "PIK3CD", "chr1", "9429889", "9929114" ], [ "PIK3R1", "chr5", "68015737", "68501821" ], [ "PLCG2", "chr16", "81579291", "82162685" ], [ "PRKCD", "chr3", "52961209", "53392717" ], [ "RAC2", "chr22", "37025270", "37444269" ], [ "STAT3", "chr17", "42113324", "42588502" ], [ "TNFRSF13B", "chr17", "16739081", "17172118" ], [ "TNFRSF13C", "chr22", "41725032", "42126817" ], [ "TNFSF12", "chr17", "7349058", "7757881" ], [ "DCLRE1C", "chr10", "14697359", "15154432" ], [ "GATA2", "chr3", "128279422", "128693201" ], [ "JAK3", "chr19", "17624782", "18048071" ], [ "RAG1", "chr11", "36310366", "36779762" ], [ "RAG2", "chr11", "36391943", "36798279" ], [ "STXBP2", "chr19", "7437110", "7847873" ], [ "BLNK", "chr10", "95989171", "96471576" ], [ "BTK", "chrX", "101149447", "101590796" ], [ "XIAP", "chrX", "123659812", "124113979" ], [ "CD79A", "chr19", "41677279", "42081372" ], [ "CD79B", "chr17", "63728740", "64132331" ], [ "GATA2", "chr3", "128279422", "128693201" ], [ "IGLL1", "chr22", "23373125", "23780290" ], [ "MOGS", "chr2", "74261057", "74665382" ], [ "SH2D1A", "chrX", "124146282", "124573160" ], [ "TRNT1", "chr3", "2926937", "3353435" ] ], "fastqFile": [ "S069-ONT-RU-01.guppy442.fastq.gz", "S069-ONT-RU-02.guppy442.fastq.gz", "S069-ONT-RU-03.guppy442.fastq.gz" ], "sampleName": "S069-case-CVID", "readVer": "guppy442" }, "S070": { "genesTargeted": [ [ "[" ], [ "GBF1region", "chr10", "100000000", "105000000" ], [ "FGF14region", "chr13", "101000000", "104000000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S070-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S070-case-GBF1-FGF14-translocation", "readVer": "guppy4011" }, "S071": { "genesTargeted": [ [ "[" ], [ "METTL5", "chr2", "169780000", "169850000" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S071-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S071-case-METTL5", "readVer": "guppy4011" }, "mtS071": { "genesTargeted": [ [ "[" ], [ "mito", "chrM", "1", "16569" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S071-ONT-RU-mtDNA.guppy4011.fastq.gz" ], "sampleName": "S071-case-mtDNA", "readVer": "guppy4011" }, "S072": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S072-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S072-case-USPKD03", "readVer": "guppy440" }, "S073": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S073-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S073-case-USPKD08", "readVer": "guppy440" }, "S074": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S074-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S074-case-USPKD13", "readVer": "guppy440" }, "S075": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S075-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S075-case-USPKD17", "readVer": "guppy440" }, "S076": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S076-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S076-case-USPKD26", "readVer": "guppy440" }, "S077": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S077-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S077-case-USPKD36", "readVer": "guppy440" }, "S078": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S078-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S078-case-USPKD40", "readVer": "guppy440" }, "S079": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S079-ONT-RU-01.bonito-0.3.1.fasta.gz" ], "sampleName": "S079-case-USPKD43", "readVer": "bonito-0.3.1" }, "S080": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S080-ONT-RU-01.bonito-0.3.1.fasta.gz" ], "sampleName": "S080-case-USPKD47", "readVer": "bonito-0.3.1" }, "S081": { "genesTargeted": [ [ "[" ], [ "ARL13B", "chr3", "93480139", "94155678" ], [ "CC2D2A", "chr4", "14968660", "15701971" ], [ "IFT140", "chr16", "1010427", "1712072" ], [ "NPHP1", "chr2", "109622311", "110305013" ], [ "PKHD1", "chr6", "51114685", "52187625" ], [ "TCTN2", "chr12", "123171108", "123808405" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S081-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S081-case-USPKD49", "readVer": "guppy440" }, "S082": { "genesTargeted": [ [ "[" ], [ "RBM20", "chr10", "107000000", "114000000" ], [ "chr17target", "chr17", "1", "23000000" ] ], "fastqFile": [ "S082-ONT-RU-01.guppy442.fastq.gz", "S082-ONT-RU-02.guppy442.fastq.gz", "S082-ONT-RU-03.guppy442.fastq.gz" ], "sampleName": "S082-case-RBM20-chr17", "readVer": "guppy442" }, "S083": { "genesTargeted": [ [ "[" ], [ "chr4target", "chr4", "1", "49000000" ] ], "fastqFile": [ "S083-ONT-RU-01.guppy4011.fastq.gz", "S083-ONT-RU-02.guppy4011.fastq.gz" ], "sampleName": "S083-case-chr4-del-dup", "readVer": "guppy4011" }, "S085": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S085-ONT-RU-01.guppy440.fastq.gz" ], "sampleName": "S085-case-DBA-mom", "readVer": "guppy440" }, "S086": { "genesTargeted": [ [ "[" ], [ "KIAA1109", "chr4", "121200000", "123300000" ] ], "fastqFile": [ "S086-ONT-RU-01.guppy442.fastq.gz", "S086-ONT-RU-02.guppy442.fastq.gz", "S086-ONT-RU-03.guppy442.fastq.gz" ], "fast5Path": " ID = \"S086\"\n sampleName = \"S086-case-mosaic-KIAA1109\"\n fastqFile = [\"S086-ONT-RU-01.guppy442.fastq.gz\",\"S086-ONT-RU-02.guppy442.fastq.gz\",\"S086-ONT-RU-03.guppy442.fastq.gz", "sampleName": "S086-case-mosaic-KIAA1109", "readVer": "guppy442" }, "S087": { "genesTargeted": [ [ "[" ], [ "chr2target", "chr2", "196000000", "200000000" ], [ "chr19target", "chr19", "28000000", "32000000" ], [ "DDHD1", "chr14", "52000000", "54000000" ], [ "PRX", "chr19", "39000000", "42000000" ] ], "fastqFile": [ "S087-ONT-RU-01.guppy442.fastq.gz", "S087-ONT-RU-02.guppy442.fastq.gz", "S087-ONT-RU-03.guppy442.fastq.gz" ], "fast5Path": " ID = \"S087\"\n sampleName = \"S087-case-spasticity\"\n fastqFile = [\"S087-ONT-RU-01.guppy442.fastq.gz\",\"S087-ONT-RU-02.guppy442.fastq.gz\",\"S087-ONT-RU-03.guppy442.fastq.gz", "sampleName": "S087-case-spasticity", "readVer": "guppy442" }, "S089": { "genesTargeted": [ [ "[" ], [ "TBCK", "chr4", "105541599", "106816683" ], [ "PCBD1", "chr10", "70382280", "71388565" ], [ "PTS", "chr11", "111726428", "112733973" ], [ "PAH", "chr12", "102336889", "103458441" ], [ "GCH1", "chr14", "54342005", "55402826" ], [ "SPR", "chr2", "72387408", "73392158" ], [ "QDPR", "chr4", "16986393", "18012234" ], [ "ACADM", "chr1", "75224347", "76263679" ], [ "CPT2", "chr1", "52696824", "53714197" ], [ "HMGCL", "chr1", "23301877", "24325459" ], [ "HMGCS2", "chr1", "119247996", "120268932" ], [ "ACADSB", "chr10", "122509006", "123558317" ], [ "CPT1A", "chr11", "68254620", "69344410" ], [ "ACADS", "chr12", "120225826", "121240008" ], [ "ETFA", "chr15", "75715353", "76811469" ], [ "MLYCD", "chr16", "83399115", "84427031" ], [ "ACADVL", "chr17", "6717125", "7725267" ], [ "ETFB", "chr19", "50845155", "51866388" ], [ "HADHA", "chr2", "25690635", "26744632" ], [ "HADHB", "chr2", "25744748", "26790465" ], [ "SLC25A20", "chr3", "48356926", "49398882" ], [ "ETFDH", "chr4", "158172101", "159209623" ], [ "HADH", "chr4", "107489714", "108535175" ], [ "SLC22A5", "chr5", "131869704", "132895614" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S089-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S089-case-CHOP-PKU", "readVer": "guppy4011" }, "S090": { "genesTargeted": [ [ "[" ], [ "TBCK", "chr4", "105541599", "106816683" ], [ "PCBD1", "chr10", "70382280", "71388565" ], [ "PTS", "chr11", "111726428", "112733973" ], [ "PAH", "chr12", "102336889", "103458441" ], [ "GCH1", "chr14", "54342005", "55402826" ], [ "SPR", "chr2", "72387408", "73392158" ], [ "QDPR", "chr4", "16986393", "18012234" ], [ "ACADM", "chr1", "75224347", "76263679" ], [ "CPT2", "chr1", "52696824", "53714197" ], [ "HMGCL", "chr1", "23301877", "24325459" ], [ "HMGCS2", "chr1", "119247996", "120268932" ], [ "ACADSB", "chr10", "122509006", "123558317" ], [ "CPT1A", "chr11", "68254620", "69344410" ], [ "ACADS", "chr12", "120225826", "121240008" ], [ "ETFA", "chr15", "75715353", "76811469" ], [ "MLYCD", "chr16", "83399115", "84427031" ], [ "ACADVL", "chr17", "6717125", "7725267" ], [ "ETFB", "chr19", "50845155", "51866388" ], [ "HADHA", "chr2", "25690635", "26744632" ], [ "HADHB", "chr2", "25744748", "26790465" ], [ "SLC25A20", "chr3", "48356926", "49398882" ], [ "ETFDH", "chr4", "158172101", "159209623" ], [ "HADH", "chr4", "107489714", "108535175" ], [ "SLC22A5", "chr5", "131869704", "132895614" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S090-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S090-case-CHOP-VLCAD", "readVer": "guppy4011" }, "S094": { "genesTargeted": [ [ "[" ], [ "TBCK", "chr4", "105541599", "106816683" ], [ "PCBD1", "chr10", "70382280", "71388565" ], [ "PTS", "chr11", "111726428", "112733973" ], [ "PAH", "chr12", "102336889", "103458441" ], [ "GCH1", "chr14", "54342005", "55402826" ], [ "SPR", "chr2", "72387408", "73392158" ], [ "QDPR", "chr4", "16986393", "18012234" ], [ "ACADM", "chr1", "75224347", "76263679" ], [ "CPT2", "chr1", "52696824", "53714197" ], [ "HMGCL", "chr1", "23301877", "24325459" ], [ "HMGCS2", "chr1", "119247996", "120268932" ], [ "ACADSB", "chr10", "122509006", "123558317" ], [ "CPT1A", "chr11", "68254620", "69344410" ], [ "ACADS", "chr12", "120225826", "121240008" ], [ "ETFA", "chr15", "75715353", "76811469" ], [ "MLYCD", "chr16", "83399115", "84427031" ], [ "ACADVL", "chr17", "6717125", "7725267" ], [ "ETFB", "chr19", "50845155", "51866388" ], [ "HADHA", "chr2", "25690635", "26744632" ], [ "HADHB", "chr2", "25744748", "26790465" ], [ "SLC25A20", "chr3", "48356926", "49398882" ], [ "ETFDH", "chr4", "158172101", "159209623" ], [ "HADH", "chr4", "107489714", "108535175" ], [ "SLC22A5", "chr5", "131869704", "132895614" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S094-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S094-case-CHOP-TBCK", "readVer": "guppy4011" }, "S095": { "genesTargeted": [ [ "[" ], [ "TBCK", "chr4", "105541599", "106816683" ], [ "PCBD1", "chr10", "70382280", "71388565" ], [ "PTS", "chr11", "111726428", "112733973" ], [ "PAH", "chr12", "102336889", "103458441" ], [ "GCH1", "chr14", "54342005", "55402826" ], [ "SPR", "chr2", "72387408", "73392158" ], [ "QDPR", "chr4", "16986393", "18012234" ], [ "ACADM", "chr1", "75224347", "76263679" ], [ "CPT2", "chr1", "52696824", "53714197" ], [ "HMGCL", "chr1", "23301877", "24325459" ], [ "HMGCS2", "chr1", "119247996", "120268932" ], [ "ACADSB", "chr10", "122509006", "123558317" ], [ "CPT1A", "chr11", "68254620", "69344410" ], [ "ACADS", "chr12", "120225826", "121240008" ], [ "ETFA", "chr15", "75715353", "76811469" ], [ "MLYCD", "chr16", "83399115", "84427031" ], [ "ACADVL", "chr17", "6717125", "7725267" ], [ "ETFB", "chr19", "50845155", "51866388" ], [ "HADHA", "chr2", "25690635", "26744632" ], [ "HADHB", "chr2", "25744748", "26790465" ], [ "SLC25A20", "chr3", "48356926", "49398882" ], [ "ETFDH", "chr4", "158172101", "159209623" ], [ "HADH", "chr4", "107489714", "108535175" ], [ "SLC22A5", "chr5", "131869704", "132895614" ] ], "analysisRegion": [ [] ], "fastqFile": [ "S095-ONT-RU-01.guppy4011.fastq.gz" ], "sampleName": "S095-case-CHOP-VLCAD", "readVer": "guppy4011" }, "M0113": { "fastqFile": [ "M0113-ONT-WGS-01.guppy507.fastq.gz", "M0113-ONT-WGS-02.guppy507.fastq.gz" ], "fast5Path": " ID = \"M0113\"\n sampleName = \"M0113-case-unknown-infection\"\n experimentType = \"WGS\"\n fastqFile = [\"M0113-ONT-WGS-01.guppy507.fastq.gz\",\"M0113-ONT-WGS-02.guppy507.fastq.gz", "sampleName": "M0113-case-unknown-infection", "readVer": "guppy507" }, "S116": { "genesTargeted": [ [ "[" ], [ "POLG", "chr15", "88000000", "91000000" ] ], "fastqFile": [ "S116-ONT-RU-01.guppy442.fastq.gz", "S116-ONT-RU-02.guppy442.fastq.gz" ], "sampleName": "S116-case-POLG", "readVer": "guppy442" }, "S117": { "genesTargeted": [ [ "[" ], [ "POLG", "chr15", "88000000", "91000000" ] ], "fastqFile": [ "S117-ONT-RU-01.guppy442.fastq.gz", "S117-ONT-RU-02.guppy442.fastq.gz" ], "sampleName": "S117-case-POLG", "readVer": "guppy442" }, "S131": { "genesTargeted": [ [ "[" ], [ "GNRHR", "chr4", "67000000", "69000000" ], [ "ANOS1", "chrX", "7500000", "9500000" ], [ "CHD7", "chr8", "60000000", "62000000" ], [ "FGFR1", "chr8", "37500000", "39500000" ], [ "KISS1", "chr1", "203690341", "204696491" ], [ "FGF8", "chr10", "101270130", "102280369" ], [ "WDR11", "chr10", "120351313", "121409525" ], [ "TAC3", "chr12", "56510000", "57516529" ], [ "KISS1R", "chr19", "416693", "1421005" ], [ "HS6ST1", "chr2", "127765480", "128818868" ], [ "PROKR2", "chr20", "4798852", "5816732" ], [ "SOX10", "chr22", "37472312", "38484555" ], [ "PROK2", "chr3", "71271655", "72285148" ], [ "TACR3", "chr4", "103086031", "104219985" ], [ "GNRH1", "chr8", "24919258", "25925040" ], [ "CDK9", "chr9", "127286034", "128290792" ] ], "fastqFile": [ "S131-ONT-RU-01.guppy442.fastq.gz", "S131-ONT-RU-02.guppy442.fastq.gz" ], "sampleName": "S131-case-Kallmann", "readVer": "guppy442" }, "S142": { "genesTargeted": [ [ "[" ] ], "fastqFile": [ "S142-ONT-WGS-01.guppy442.fastq.gz" ], "sampleName": "S142-control", "readVer": "guppy442" }, "S163": { "genesTargeted": [ [ "[" ], [ "PTPN11", "chr12", "111000000", "114000000" ] ], "fastqFile": [ "S163-ONT-RU-01.guppy442.fastq.gz" ], "sampleName": "S163-case-PTPN11", "readVer": "guppy442" }, "S164": { "genesTargeted": [ [ "[" ], [ "CTNND2", "chr5", "10000000", "13000000" ] ], "fastqFile": [ "S164-ONT-RU-01.guppy442.fastq.gz" ], "sampleName": "S164-case-CTNND2-parent", "readVer": "guppy442" }, "S165": { "genesTargeted": [ [ "[" ], [ "CTNND2", "chr5", "10000000", "13000000" ] ], "fastqFile": [ "S165-ONT-RU-01.guppy442.fastq.gz" ], "sampleName": "S165-case-CTNND2-child", "readVer": "guppy442" }, "S166": { "fastqFile": [ "S166-ONT-RU-01.guppy442.fastq.gz" ], "sampleName": "S166-case-ATP7B", "readVer": "guppy442" }, "M0179": { "fastqFile": [ "M0179-ONT-WGS-01.guppy507.pass.fastq.gz" ], "sampleName": "M0179-case-WRN-rtPCR", "readVer": "guppy507" }, "M0180": { "fastqFile": [ "M0180_lib1.guppy507.fail.fastq.gz", "M0180_lib1.guppy507.pass.fastq.gz", "M0180_lib2.guppy507.fail.fastq.gz", "M0180_lib2.guppy507.pass.fastq.gz" ], "fast5Path": " ID = \"M0180\"\n sampleName = \"M0180-case-unknown\"\n experimentType = \"WGS\"\n fastqFile = [\"M0180_lib1.guppy507.fail.fastq.gz\",\"M0180_lib1.guppy507.pass.fastq.gz\",\"M0180_lib2.guppy507.fail.fastq.gz\",\"M0180_lib2.guppy507.pass.fastq.gz", "sampleName": "M0180-case-unknown", "readVer": "guppy507" }, "M01xx": { "fastqFile": [ "M01-ONT-WGS-01.guppy507.pass.fastq.gz" ], "sampleName": "M01-case-unknown", "readVer": "guppy507" }, "M01ab": { "fastqFile": [ "M01ab-fakefile.gz" ], "sampleName": "M01ab-fake-name", "readVer": "guppy507" } }