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Page 1
The COVID-19 XPRIZE and the need for scalable, fast, and widespread testing.
MacKay MJ, Hooker AC, Afshinnekoo E, Salit M, Kelly J, Feldstein JV, Haft N, Schenkel D, Nambi S, Cai Y, Zhang F, Church G, Dai J, Wang CL, Levy S, Huber J, Ji HP, Kriegel A, Wyllie AL, Mason CE. MacKay MJ, et al. Among authors: salit m. Nat Biotechnol. 2020 Sep;38(9):1021-1024. doi: 10.1038/s41587-020-0655-4. Nat Biotechnol. 2020. PMID: 32820257 Free PMC article. No abstract available.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Gargis AS, et al. Among authors: salit ml. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E, Sebra R, Bashir A, Truty RM, Chang CC, Gulbahce N, Zhao K, Ghosh S, Hyland F, Fu Y, Chaisson M, Xiao C, Trow J, Sherry ST, Zaranek AW, Ball M, Bobe J, Estep P, Church GM, Marks P, Kyriazopoulou-Panagiotopoulou S, Zheng GX, Schnall-Levin M, Ordonez HS, Mudivarti PA, Giorda K, Sheng Y, Rypdal KB, Salit M. Zook JM, et al. Among authors: salit m. Sci Data. 2016 Jun 7;3:160025. doi: 10.1038/sdata.2016.25. Sci Data. 2016. PMID: 27271295 Free PMC article.
Best practices for benchmarking germline small-variant calls in human genomes.
Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team. Krusche P, et al. Among authors: salit m. Nat Biotechnol. 2019 May;37(5):555-560. doi: 10.1038/s41587-019-0054-x. Epub 2019 Mar 11. Nat Biotechnol. 2019. PMID: 30858580 Free PMC article.
Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.
Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team. Krusche P, et al. Among authors: salit m. Nat Biotechnol. 2019 May;37(5):567. doi: 10.1038/s41587-019-0108-0. Nat Biotechnol. 2019. PMID: 30899106
A robust benchmark for detection of germline large deletions and insertions.
Zook JM, Hansen NF, Olson ND, Chapman L, Mullikin JC, Xiao C, Sherry S, Koren S, Phillippy AM, Boutros PC, Sahraeian SME, Huang V, Rouette A, Alexander N, Mason CE, Hajirasouliha I, Ricketts C, Lee J, Tearle R, Fiddes IT, Barrio AM, Wala J, Carroll A, Ghaffari N, Rodriguez OL, Bashir A, Jackman S, Farrell JJ, Wenger AM, Alkan C, Soylev A, Schatz MC, Garg S, Church G, Marschall T, Chen K, Fan X, English AC, Rosenfeld JA, Zhou W, Mills RE, Sage JM, Davis JR, Kaiser MD, Oliver JS, Catalano AP, Chaisson MJP, Spies N, Sedlazeck FJ, Salit M. Zook JM, et al. Among authors: salit m. Nat Biotechnol. 2020 Nov;38(11):1347-1355. doi: 10.1038/s41587-020-0538-8. Epub 2020 Jun 15. Nat Biotechnol. 2020. PMID: 32541955 Free PMC article.
Author Correction: A robust benchmark for detection of germline large deletions and insertions.
Zook JM, Hansen NF, Olson ND, Chapman L, Mullikin JC, Xiao C, Sherry S, Koren S, Phillippy AM, Boutros PC, Sahraeian SME, Huang V, Rouette A, Alexander N, Mason CE, Hajirasouliha I, Ricketts C, Lee J, Tearle R, Fiddes IT, Barrio AM, Wala J, Carroll A, Ghaffari N, Rodriguez OL, Bashir A, Jackman S, Farrell JJ, Wenger AM, Alkan C, Soylev A, Schatz MC, Garg S, Church G, Marschall T, Chen K, Fan X, English AC, Rosenfeld JA, Zhou W, Mills RE, Sage JM, Davis JR, Kaiser MD, Oliver JS, Catalano AP, Chaisson MJP, Spies N, Sedlazeck FJ, Salit M. Zook JM, et al. Among authors: salit m. Nat Biotechnol. 2020 Nov;38(11):1357. doi: 10.1038/s41587-020-0640-y. Nat Biotechnol. 2020. PMID: 32699374
Testing at scale during the COVID-19 pandemic.
Mercer TR, Salit M. Mercer TR, et al. Among authors: salit m. Nat Rev Genet. 2021 Jul;22(7):415-426. doi: 10.1038/s41576-021-00360-w. Epub 2021 May 4. Nat Rev Genet. 2021. PMID: 33948037 Free PMC article. Review.
The Coronavirus Standards Working Group's roadmap for improved population testing.
Mercer T, Almond N, Crone MA, Chain PSG, Deshpande A, Eveleigh D, Freemont P, Fuchs S, Garlick R, Huggett J, Kammel M, Li PE, Milavec M, Marlowe EM, O'Sullivan DM, Page M, Pestano GA, Suliman S, Simen B, Sninsky JJ, Sopchak L, Tato CM, Vallone PM, Vandesompele J, White TJ, Zeichhardt H, Salit M. Mercer T, et al. Among authors: salit m. Nat Biotechnol. 2022 Nov;40(11):1563-1568. doi: 10.1038/s41587-022-01538-1. Nat Biotechnol. 2022. PMID: 36323792 Free PMC article. No abstract available.
Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures.
Munro SA, Lund SP, Pine PS, Binder H, Clevert DA, Conesa A, Dopazo J, Fasold M, Hochreiter S, Hong H, Jafari N, Kreil DP, Łabaj PP, Li S, Liao Y, Lin SM, Meehan J, Mason CE, Santoyo-Lopez J, Setterquist RA, Shi L, Shi W, Smyth GK, Stralis-Pavese N, Su Z, Tong W, Wang C, Wang J, Xu J, Ye Z, Yang Y, Yu Y, Salit M. Munro SA, et al. Among authors: salit m. Nat Commun. 2014 Sep 25;5:5125. doi: 10.1038/ncomms6125. Nat Commun. 2014. PMID: 25254650 Free article.
114 results