- Research Scientist/Collaborator
- Email: porubsky [AT] u.washington.edu
Professional Experience
Education
Research Interests
Bioinformatics, Single-cell genomics & Evolutionary biology
Selected Publications
Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, et al. Recurrent Inversion Polymorphisms in Humans Associate with Genetic Instability and Genomic Disorders. (2022) Cell 185 (11): 1986–2005.e26.
Porubsky D, Ebert P, Audano PA, Vollger MR, Harvey WT, Marijon P, Ebler J, et al. Fully Phased Human Genome Assembly without Parental Data Using Single-Cell Strand Sequencing and Long Reads. (2021) Nature Biotechnology 39 (3): 302–8.
Porubsky D, Sanders AD, Hops W, Hsieh P, Sulovari A, Li R, Mercuri L, et al. Recurrent Inversion Toggling and Great Ape Genome Evolution. (2020) Nature Genetics, June. https://doi.org/10.1038/s41588-020-0646-x.
Ghareghani M, Porubsky D, Sanders AD, Meiers S, Eichler EE, Korbel JO, Marschall T. Strand-seq enables reliable separation of long reads by chromosome via expectation maximization. (2018) Bioinformatics, 1;34(13):i115-i123.
Porubsky D, Garg S, Sanders AD, Korbel JO, Guryev V, Lansdorp PM, Marschall T. Dense andaccurate whole-chromosome haplotyping of individual genomes. (2017) Nat Commun. 8(1):1293
Porubsky D, Sanders AD, van Wietmarschen N, Falconer E, Hills M, Spierings DC, Bevova MR, Guryev V, Lansdorp PM. Direct chromosome-length haplotyping by single-cell sequencing. (2016) Genome Research, 26:1–10
