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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: gasparotto d. 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.
Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study.
Zhao Y, Fang LT, Shen TW, Choudhari S, Talsania K, Chen X, Shetty J, Kriga Y, Tran B, Zhu B, Chen Z, Chen W, Wang C, Jaeger E, Meerzaman D, Lu C, Idler K, Ren L, Zheng Y, Shi L, Petitjean V, Sultan M, Hung T, Peters E, Drabek J, Vojta P, Maestro R, Gasparotto D, Kõks S, Reimann E, Scherer A, Nordlund J, Liljedahl U, Foox J, Mason CE, Xiao C, Hong H, Xiao W. Zhao Y, et al. Among authors: gasparotto d. Sci Data. 2021 Nov 9;8(1):296. doi: 10.1038/s41597-021-01077-5. Sci Data. 2021. PMID: 34753956 Free PMC article.
Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.
Gasparotto D, Rossi S, Polano M, Tamborini E, Lorenzetto E, Sbaraglia M, Mondello A, Massani M, Lamon S, Bracci R, Mandolesi A, Frate E, Stanzial F, Agaj J, Mazzoleni G, Pilotti S, Gronchi A, Dei Tos AP, Maestro R. Gasparotto D, et al. Clin Cancer Res. 2017 Jan 1;23(1):273-282. doi: 10.1158/1078-0432.CCR-16-0152. Epub 2016 Jul 7. Clin Cancer Res. 2017. PMID: 27390349
p16/CDKN2 and CDK4 gene mutations in sporadic melanoma development and progression.
Piccinin S, Doglioni C, Maestro R, Vukosavljevic T, Gasparotto D, D'Orazi C, Boiocchi M. Piccinin S, et al. Among authors: gasparotto d, d orazi c. Int J Cancer. 1997 Feb 20;74(1):26-30. doi: 10.1002/(sici)1097-0215(19970220)74:1<26::aid-ijc5>3.0.co;2-2. Int J Cancer. 1997. PMID: 9036865 Free article.
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