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Page 1
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
Daniels CA, Abdulkadir A, Cleveland MH, McDaniel JH, Jáspez D, Rubio-Rodríguez LA, Muñoz-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 D, Kolesnikov A, Brambrink L, Mootor MFE, Patel Y, Yamaguchi TN, Boutros PC, Sienkiewicz K, Foox J, Mason CE, Lajoie BR, Ruiz-Perez CA, Kruglyak S, Zook JM, Olson ND. Daniels CA, et al. Among authors: mehio r. 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: mehio r. 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: mehio r. bioRxiv [Preprint]. 2024 Jan 6:2024.01.02.573821. doi: 10.1101/2024.01.02.573821. bioRxiv. 2024. PMID: 38260545 Free PMC article. Preprint.
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape.
Golkaram M, Kuo F, Gupta S, Carlo MI, Salmans ML, Vijayaraghavan R, Tang C, Makarov V, Rappold P, Blum KA, Zhao C, Mehio R, Zhang S, Godsey J, Pawlowski T, DiNatale RG, Morris LGT, Durack J, Russo P, Kotecha RR, Coleman J, Chen YB, Reuter VE, Motzer RJ, Voss MH, Liu L, Reznik E, Chan TA, Hakimi AA. Golkaram M, et al. Among authors: mehio r. Genome Med. 2022 Dec 19;14(1):143. doi: 10.1186/s13073-022-01146-3. Genome Med. 2022. PMID: 36536472 Free PMC article.
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: mehio r. 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.