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Familial long-read sequencing increases yield of de novo mutations.
Noyes MD, Harvey WT, Porubsky D, Sulovari A, Li R, Rose NR, Audano PA, Munson KM, Lewis AP, Hoekzema K, Mantere T, Graves-Lindsay TA, Sanders AD, Goodwin S, Kramer M, Mokrab Y, Zody MC, Hoischen A, Korbel JO, McCombie WR, Eichler EE. Noyes MD, et al. Among authors: li r. Am J Hum Genet. 2022 Apr 7;109(4):631-646. doi: 10.1016/j.ajhg.2022.02.014. Epub 2022 Mar 14. Am J Hum Genet. 2022. PMID: 35290762 Free PMC article.
Recurrent inversion toggling and great ape genome evolution.
Porubsky D, Sanders AD, Höps W, Hsieh P, Sulovari A, Li R, Mercuri L, Sorensen M, Murali SC, Gordon D, Cantsilieris S, Pollen AA, Ventura M, Antonacci F, Marschall T, Korbel JO, Eichler EE. Porubsky D, et al. Among authors: li r. Nat Genet. 2020 Aug;52(8):849-858. doi: 10.1038/s41588-020-0646-x. Epub 2020 Jun 15. Nat Genet. 2020. PMID: 32541924 Free PMC article.
Segmental duplications and their variation in a complete human genome.
Vollger MR, Guitart X, Dishuck PC, Mercuri L, Harvey WT, Gershman A, Diekhans M, Sulovari A, Munson KM, Lewis AP, Hoekzema K, Porubsky D, Li R, Nurk S, Koren S, Miga KH, Phillippy AM, Timp W, Ventura M, Eichler EE. Vollger MR, et al. Among authors: li r. Science. 2022 Apr;376(6588):eabj6965. doi: 10.1126/science.abj6965. Epub 2022 Apr 1. Science. 2022. PMID: 35357917 Free PMC article.
Human-specific tandem repeat expansion and differential gene expression during primate evolution.
Sulovari A, Li R, Audano PA, Porubsky D, Vollger MR, Logsdon GA; Human Genome Structural Variation Consortium; Warren WC, Pollen AA, Chaisson MJP, Eichler EE. Sulovari A, et al. Among authors: li r. Proc Natl Acad Sci U S A. 2019 Nov 12;116(46):23243-23253. doi: 10.1073/pnas.1912175116. Epub 2019 Oct 28. Proc Natl Acad Sci U S A. 2019. PMID: 31659027 Free PMC article.
A high-quality bonobo genome refines the analysis of hominid evolution.
Mao Y, Catacchio CR, Hillier LW, Porubsky D, Li R, Sulovari A, Fernandes JD, Montinaro F, Gordon DS, Storer JM, Haukness M, Fiddes IT, Murali SC, Dishuck PC, Hsieh P, Harvey WT, Audano PA, Mercuri L, Piccolo I, Antonacci F, Munson KM, Lewis AP, Baker C, Underwood JG, Hoekzema K, Huang TH, Sorensen M, Walker JA, Hoffman J, Thibaud-Nissen F, Salama SR, Pang AWC, Lee J, Hastie AR, Paten B, Batzer MA, Diekhans M, Ventura M, Eichler EE. Mao Y, et al. Among authors: li r. Nature. 2021 Jun;594(7861):77-81. doi: 10.1038/s41586-021-03519-x. Epub 2021 May 5. Nature. 2021. PMID: 33953399 Free PMC article.
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