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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: catreux s. 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: catreux s. Nat Biotechnol. 2024 Oct 25. doi: 10.1038/s41587-024-02382-1. Online ahead of print. Nat Biotechnol. 2024. PMID: 39455800
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair.
McDaniel JH, Patel V, Olson ND, He HJ, He Z, Cole KD, Schmitt A, Sikkink K, Sedlazeck FJ, Doddapaneni H, Jhangiani SN, Muzny DM, Gingras MC, Mehta H, Paulin LF, Hastie AR, Yu HC, Weigman V, Rojas A, Kennedy K, Remington J, Gonzalez I, Sudkamp M, Wiseman K, Lajoie BR, Levy S, Jain M, Akeson S, Narzisi G, Steinsnyder Z, Reeves C, Shelton J, Kingan SB, Lambert C, Bayabyan P, Wenger AM, McLaughlin IJ, Adamson A, Kingsley C, Wescott M, Kim Y, Paten B, Park J, Violich I, Miga KH, Gardner J, McNulty B, Rosen G, McCoy R, Brundu F, Sayyari E, Scheffler K, Truong S, Catreux S, Hannah LC, Lipson D, Benjamin H, Iremadze N, Soifer I, Eacker S, Wood M, Cross E, Husar G, Gross S, Vernich M, Kolmogorov M, Ahmad T, Keskus A, Bryant A, Thibaud-Nissen F, Trow J, Proszynski J, Hirschberg JW, Ryon K, Mason CE, Wagner J, Xiao C, Liss AS, Zook JM. McDaniel JH, et al. Among authors: catreux s. bioRxiv [Preprint]. 2024 Oct 18:2024.09.18.613544. doi: 10.1101/2024.09.18.613544. bioRxiv. 2024. PMID: 39345378 Free PMC article. Preprint.
Evaluation of somatic copy number variation detection by NGS technologies and bioinformatics tools on a hyper-diploid cancer genome.
Masood D, Ren L, Nguyen C, Brundu FG, Zheng L, Zhao Y, Jaeger E, Li Y, Cha SW, Halpern A, Truong S, Virata M, Yan C, Chen Q, Pang A, Alberto R, Xiao C, Yang Z, Chen W, Wang C, Cross F Jr, Catreux S, Shi L, Beaver JA, Xiao W, Meerzaman DM. Masood D, et al. Among authors: catreux s. Genome Biol. 2024 Jun 20;25(1):163. doi: 10.1186/s13059-024-03294-8. Genome Biol. 2024. PMID: 38902799 Free PMC article.
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: catreux s. bioRxiv [Preprint]. 2024 Jan 6:2024.01.02.573821. doi: 10.1101/2024.01.02.573821. bioRxiv. 2024. PMID: 38260545 Free PMC article. Preprint.
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: catreux s. 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.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. Miller NA, et al. Among authors: catreux s. Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8. Genome Med. 2015. PMID: 26419432 Free PMC article.