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Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
Porubsky D, Ebert P, Audano PA, Vollger MR, Harvey WT, Marijon P, Ebler J, Munson KM, Sorensen M, Sulovari A, Haukness M, Ghareghani M; Human Genome Structural Variation Consortium; Lansdorp PM, Paten B, Devine SE, Sanders AD, Lee C, Chaisson MJP, Korbel JO, Eichler EE, Marschall T. Porubsky D, et al. Nat Biotechnol. 2021 Mar;39(3):302-308. doi: 10.1038/s41587-020-0719-5. Epub 2020 Dec 7. Nat Biotechnol. 2021. PMID: 33288906 Free PMC article.
Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies.
Bakker B, Taudt A, Belderbos ME, Porubsky D, Spierings DC, de Jong TV, Halsema N, Kazemier HG, Hoekstra-Wakker K, Bradley A, de Bont ES, van den Berg A, Guryev V, Lansdorp PM, Colomé-Tatché M, Foijer F. Bakker B, et al. Among authors: porubsky d. Genome Biol. 2016 May 31;17(1):115. doi: 10.1186/s13059-016-0971-7. Genome Biol. 2016. PMID: 27246460 Free PMC article.
Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer's disease neurons.
van den Bos H, Spierings DC, Taudt AS, Bakker B, Porubský D, Falconer E, Novoa C, Halsema N, Kazemier HG, Hoekstra-Wakker K, Guryev V, den Dunnen WF, Foijer F, Tatché MC, Boddeke HW, Lansdorp PM. van den Bos H, et al. Among authors: porubsky d. Genome Biol. 2016 May 31;17(1):116. doi: 10.1186/s13059-016-0976-2. Genome Biol. 2016. PMID: 27246599 Free PMC article.
Direct chromosome-length haplotyping by single-cell sequencing.
Porubský D, Sanders AD, van Wietmarschen N, Falconer E, Hills M, Spierings DC, Bevova MR, Guryev V, Lansdorp PM. Porubský D, et al. Genome Res. 2016 Nov;26(11):1565-1574. doi: 10.1101/gr.209841.116. Epub 2016 Sep 19. Genome Res. 2016. PMID: 27646535 Free PMC article.
Computational pan-genomics: status, promises and challenges.
Computational Pan-Genomics Consortium. Computational Pan-Genomics Consortium. Brief Bioinform. 2018 Jan 1;19(1):118-135. doi: 10.1093/bib/bbw089. Brief Bioinform. 2018. PMID: 27769991 Free PMC article. Review.
Copy number alterations assessed at the single-cell level revealed mono- and polyclonal seeding patterns of distant metastasis in a small-cell lung cancer patient.
Ferronika P, van den Bos H, Taudt A, Spierings DCJ, Saber A, Hiltermann TJN, Kok K, Porubsky D, van der Wekken AJ, Timens W, Foijer F, Colomé-Tatché M, Groen HJM, Lansdorp PM, van den Berg A. Ferronika P, et al. Among authors: porubsky d. Ann Oncol. 2017 Jul 1;28(7):1668-1670. doi: 10.1093/annonc/mdx182. Ann Oncol. 2017. PMID: 28419234 Free article. No abstract available.
68 results