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: RET: E843K; rs755837568
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Pathogenic Germline Variants in 10,389 Adult Cancers.
Cell
Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L