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Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
Fang LT, Zhu B, Zhao Y, Chen W, Yang Z, Kerrigan L, Langenbach K, de Mars M, Lu C, Idler K, Jacob H, Zheng Y, Ren L, Yu Y, Jaeger E, Schroth GP, Abaan OD, Talsania K, Lack J, Shen TW, Chen Z, Stanbouly S, Tran B, Shetty J, Kriga Y, Meerzaman D, Nguyen C, Petitjean V, Sultan M, Cam M, Mehta M, Hung T, Peters E, Kalamegham R, Sahraeian SME, Mohiyuddin M, Guo Y, Yao L, Song L, Lam HYK, Drabek J, Vojta P, Maestro R, Gasparotto D, Kõks S, Reimann E, Scherer A, Nordlund J, Liljedahl U, Jensen RV, Pirooznia M, Li Z, Xiao C, Sherry ST, Kusko R, Moos M, Donaldson E, Tezak Z, Ning B, Tong W, Li J, Duerken-Hughes P, Catalanotti C, Maheshwari S, Shuga J, Liang WS, Keats J, Adkins J, Tassone E, Zismann V, McDaniel T, Trent J, Foox J, Butler D, Mason CE, Hong H, Shi L, Wang C, Xiao W; Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium. Fang LT, et al. Among authors: mohiyuddin m. Nat Biotechnol. 2021 Sep;39(9):1151-1160. doi: 10.1038/s41587-021-00993-6. Epub 2021 Sep 9. Nat Biotechnol. 2021. PMID: 34504347 Free PMC article.
An ensemble approach to accurately detect somatic mutations using SomaticSeq.
Fang LT, Afshar PT, Chhibber A, Mohiyuddin M, Fan Y, Mu JC, Gibeling G, Barr S, Asadi NB, Gerstein MB, Koboldt DC, Wang W, Wong WH, Lam HY. Fang LT, et al. Among authors: mohiyuddin m. Genome Biol. 2015 Sep 17;16(1):197. doi: 10.1186/s13059-015-0758-2. Genome Biol. 2015. PMID: 26381235 Free PMC article.
svclassify: a method to establish benchmark structural variant calls.
Parikh H, Mohiyuddin M, Lam HY, Iyer H, Chen D, Pratt M, Bartha G, Spies N, Losert W, Zook JM, Salit M. Parikh H, et al. Among authors: mohiyuddin m. BMC Genomics. 2016 Jan 16;17:64. doi: 10.1186/s12864-016-2366-2. BMC Genomics. 2016. PMID: 26772178 Free PMC article.
LongISLND: in silico sequencing of lengthy and noisy datatypes.
Lau B, Mohiyuddin M, Mu JC, Fang LT, Bani Asadi N, Dallett C, Lam HY. Lau B, et al. Among authors: mohiyuddin m. Bioinformatics. 2016 Dec 15;32(24):3829-3832. doi: 10.1093/bioinformatics/btw602. Epub 2016 Sep 25. Bioinformatics. 2016. PMID: 27667791 Free PMC article.
Circular DNA elements of chromosomal origin are common in healthy human somatic tissue.
Møller HD, Mohiyuddin M, Prada-Luengo I, Sailani MR, Halling JF, Plomgaard P, Maretty L, Hansen AJ, Snyder MP, Pilegaard H, Lam HYK, Regenberg B. Møller HD, et al. Among authors: mohiyuddin m. Nat Commun. 2018 Mar 14;9(1):1069. doi: 10.1038/s41467-018-03369-8. Nat Commun. 2018. PMID: 29540679 Free PMC article.
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