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A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
Daniels C, Abdulkadir A, Cleveland MH, McDaniel JH, Jaspez D, Rubio-Rodriguez LA, Munoz-Barrera A, Lorenzo-Salazar JM, Flores C, Yoo B, Sahraeian SME, Wang Y, Rossi M, Visvanath A, Murray L, Chen WT, Catreux S, Han J, Mehio R, Parnaby G, Carroll A, Chang PC, Shafin K, Cook DE, Kolesnikov A, Brambrink L, Mootor MFE, Patel Y, Yamaguchi TN, Boutros PC, Sienkiewicz K, Foox J, Mason CE, Lajoie B, Ruiz-Perez CA, Kruglyak S, Zook JM, Olson ND. Daniels C, et al. Among authors: visvanath a. bioRxiv [Preprint]. 2024 Dec 5:2024.12.02.625685. doi: 10.1101/2024.12.02.625685. bioRxiv. 2024. PMID: 39677813 Free PMC article. Preprint.
Comprehensive genome analysis and variant detection at scale using DRAGEN.
Behera S, Catreux S, Rossi M, Truong S, Huang Z, Ruehle M, Visvanath A, Parnaby G, Roddey C, Onuchic V, Finocchio A, Cameron DL, English A, Mehtalia S, Han J, Mehio R, Sedlazeck FJ. Behera S, et al. Among authors: visvanath a. Nat Biotechnol. 2024 Oct 25. doi: 10.1038/s41587-024-02382-1. Online ahead of print. Nat Biotechnol. 2024. PMID: 39455800
Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.
Behera S, Catreux S, Rossi M, Truong S, Huang Z, Ruehle M, Visvanath A, Parnaby G, Roddey C, Onuchic V, Cameron DL, English A, Mehtalia S, Han J, Mehio R, Sedlazeck FJ. Behera S, et al. Among authors: visvanath a. bioRxiv [Preprint]. 2024 Jan 6:2024.01.02.573821. doi: 10.1101/2024.01.02.573821. bioRxiv. 2024. PMID: 38260545 Free PMC article. Preprint.