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: PIK3CA: G505E; rs1436163100
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13
Variant appearance in text: PIK3CA: 1514G>A; G505D
Genome-wide aneuploidy detected by mFast-SeqS in circulating cell-free DNA is associated with poor response to pembrolizumab in patients with advanced urothelial cancer.
Molecular Oncology
Mendelaar, Pauline A J PAJ; Robbrecht, Debbie G J DGJ; Rijnders, Maud M; de Wit, Ronald R; de Weerd, Vanja V; Deger, Teoman T; Westgeest, Hans M HM; Aarts, Maureen J B MJB; Voortman, Jens J; Martens, John W M JWM; van der Veldt, Astrid A M AAM; Nakauma-González, José Alberto JA; Wilting, Saskia M SM; Lolkema, Martijn M