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PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: yang h. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 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: yang h. Nat Biotechnol. 2023 Feb;41(2):232-238. doi: 10.1038/s41587-022-01435-7. Epub 2022 Sep 1. Nat Biotechnol. 2023. PMID: 36050551
[No title available]
[No authors listed] [No authors listed] PMID: 38170871
Unsupervised representation learning improves genomic discovery and risk prediction for respiratory and circulatory functions and diseases.
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: yang h. medRxiv [Preprint]. 2023 Aug 29:2023.04.28.23289285. doi: 10.1101/2023.04.28.23289285. medRxiv. 2023. PMID: 37163049 Free PMC article. Preprint.
Utilizing multimodal AI to improve genetic analyses of cardiovascular traits.
Zhou Y, Cosentino J, Yun T, Biradar MI, Shreibati J, Lai D, Schwantes-An TH, Luben R, McCaw Z, Engmann J, Providencia R, Schmidt AF, Munroe P, Yang H, Carroll A, Khawaja AP, McLean CY, Behsaz B, Hormozdiari F. Zhou Y, et al. Among authors: yang h. medRxiv [Preprint]. 2024 Mar 20:2024.03.19.24304547. doi: 10.1101/2024.03.19.24304547. medRxiv. 2024. PMID: 38562791 Free PMC article. Preprint.
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