Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: TSC2: S1698R; rs45514196
A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.
Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.
Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
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
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: TSC2: 5094C>A; rs45514196
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: S1698R; rs45514196
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