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A universal SNP and small-indel variant caller using deep neural networks.
Poplin R, Chang PC, Alexander D, Schwartz S, Colthurst T, Ku A, Newburger D, Dijamco J, Nguyen N, Afshar PT, Gross SS, Dorfman L, McLean CY, DePristo MA. Poplin R, et al. Among authors: mclean cy. Nat Biotechnol. 2018 Nov;36(10):983-987. doi: 10.1038/nbt.4235. Epub 2018 Sep 24. Nat Biotechnol. 2018. PMID: 30247488
An open resource for accurately benchmarking small variant and reference calls.
Zook JM, McDaniel J, Olson ND, Wagner J, Parikh H, Heaton H, Irvine SA, Trigg L, Truty R, McLean CY, De La Vega FM, Xiao C, Sherry S, Salit M. Zook JM, et al. Among authors: mclean cy. Nat Biotechnol. 2019 May;37(5):561-566. doi: 10.1038/s41587-019-0074-6. Epub 2019 Apr 1. Nat Biotechnol. 2019. PMID: 30936564 Free PMC article.
A population-specific reference panel for improved genotype imputation in African Americans.
O'Connell J, Yun T, Moreno M, Li H, Litterman N, Kolesnikov A, Noblin E, Chang PC, Shastri A, Dorfman EH, Shringarpure S; 23andMe Research Team; Auton A, Carroll A, McLean CY. O'Connell J, et al. Among authors: mclean cy. Commun Biol. 2021 Nov 5;4(1):1269. doi: 10.1038/s42003-021-02777-9. Commun Biol. 2021. PMID: 34741098 Free PMC article.
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer.
Baid G, Cook DE, Shafin K, Yun T, Llinares-López F, Berthet Q, Belyaeva A, Töpfer A, Wenger AM, Rowell WJ, Yang H, Kolesnikov A, Ammar W, Vert JP, Vaswani A, McLean CY, Nattestad M, Chang PC, Carroll A. Baid G, et al. Among authors: mclean cy. Nat Biotechnol. 2023 Feb;41(2):232-238. doi: 10.1038/s41587-022-01435-7. Epub 2022 Sep 1. Nat Biotechnol. 2023. PMID: 36050551
GREAT improves functional interpretation of cis-regulatory regions.
McLean CY, Bristor D, Hiller M, Clarke SL, Schaar BT, Lowe CB, Wenger AM, Bejerano G. McLean CY, et al. Nat Biotechnol. 2010 May;28(5):495-501. doi: 10.1038/nbt.1630. Epub 2010 May 2. Nat Biotechnol. 2010. PMID: 20436461 Free PMC article.
Unsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction.
Yun T, Cosentino J, Behsaz B, McCaw ZR, Hill D, Luben R, Lai D, Bates J, Yang H, Schwantes-An TH, Zhou Y, Khawaja AP, Carroll A, Hobbs BD, Cho MH, McLean CY, Hormozdiari F. Yun T, et al. Among authors: mclean cy. Nat Genet. 2024 Aug;56(8):1604-1613. doi: 10.1038/s41588-024-01831-6. Epub 2024 Jul 8. Nat Genet. 2024. PMID: 38977853 Free PMC article.
26 results