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2020 5
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2024 5

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Structurally divergent and recurrently mutated regions of primate genomes.
Mao Y, Harvey WT, Porubsky D, Munson KM, Hoekzema K, Lewis AP, Audano PA, Rozanski A, Yang X, Zhang S, Yoo D, Gordon DS, Fair T, Wei X, Logsdon GA, Haukness M, Dishuck PC, Jeong H, Del Rosario R, Bauer VL, Fattor WT, Wilkerson GK, Mao Y, Shi Y, Sun Q, Lu Q, Paten B, Bakken TE, Pollen AA, Feng G, Sawyer SL, Warren WC, Carbone L, Eichler EE. Mao Y, et al. Cell. 2024 Mar 14;187(6):1547-1562.e13. doi: 10.1016/j.cell.2024.01.052. Epub 2024 Feb 29. Cell. 2024. PMID: 38428424 Free article.
Personalized Pangenome References.
Sirén J, Eskandar P, Ungaro MT, Hickey G, Eizenga JM, Novak AM, Chang X, Chang PC, Kolmogorov M, Carroll A, Monlong J, Paten B. Sirén J, et al. bioRxiv [Preprint]. 2023 Dec 15:2023.12.13.571553. doi: 10.1101/2023.12.13.571553. bioRxiv. 2023. PMID: 38168361 Free PMC article. Preprint.
Local read haplotagging enables accurate long-read small variant calling.
Kolesnikov A, Cook D, Nattestad M, McNulty B, Gorzynski J, Goenka S, Ashley EA, Jain M, Miga KH, Paten B, Chang PC, Carroll A, Shafin K. Kolesnikov A, et al. bioRxiv [Preprint]. 2023 Sep 12:2023.09.07.556731. doi: 10.1101/2023.09.07.556731. bioRxiv. 2023. PMID: 37745389 Free PMC article. Preprint.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Alvarez Jerez P, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018
47 results