False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.
Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Reliability of Whole-Exome Sequencing for Assessing Intratumor Genetic Heterogeneity.
Cell Reports
Shi, Weiwei W; Ng, Charlotte K Y CKY; Lim, Raymond S RS; Jiang, Tingting T; Kumar, Sushant S; Li, Xiaotong X; Wali, Vikram B VB; Piscuoglio, Salvatore S; Gerstein, Mark B MB; Chagpar, Anees B AB; Weigelt, Britta B; Pusztai, Lajos L; Reis-Filho, Jorge S JS; Hatzis, Christos C
Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.
The American Journal Of Surgical Pathology
Palsgrove, Doreen N DN; Li, Yunjie Y; Pratilas, Christine A CA; Lin, Ming-Tseh MT; Pallavajjalla, Aparna A; Gocke, Christopher C; De Marzo, Angelo M AM; Matoso, Andres A; Netto, George J GJ; Epstein, Jonathan I JI; Argani, Pedram P
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: TSC2: G1439D; rs150397923
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D