Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.
Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Czarny, Katarzyna K; Paczkowska, Katarzyna K; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Plos One
Aoude, Lauren G LG; Xu, Mai M; Zhao, Zhen Zhen ZZ; Kovacs, Michael M; Palmer, Jane M JM; Johansson, Peter P; Symmons, Judith J; Trent, Jeffrey M JM; Martin, Nicholas G NG; Montgomery, Grant W GW; Brown, Kevin M KM; Hayward, Nicholas K NK