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: APC: P1243S; rs779103611
Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.
Nature Communications
Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M