Publications:

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: P441T; rs1444245614

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Circulating tumor DNA dynamics in advanced breast cancer treated with CDK4/6 inhibition and endocrine therapy.

Npj Breast Cancer

Martínez-Sáez, Olga O; Pascual, Tomás T; Brasó-Maristany, Fara F; Chic, Nuria N; González-Farré, Blanca B; Sanfeliu, Esther E; Rodríguez, Adela A; Martínez, Débora D; Galván, Patricia P; Rodríguez, Anna Belén AB; Schettini, Francesco F; Conte, Benedetta B; Vidal, Maria M; Adamo, Barbara B; Martínez, Antoni A; Muñoz, Montserrat M; Moreno, Reinaldo R; Villagrasa, Patricia P; Salvador, Fernando F; Ciruelos, Eva M EM; Faull, Iris I; Odegaard, Justin I JI; Prat, Aleix A

Publication Date: 2021-02-03

Variant appearance in text: APC: 1321C>A; P441T

PubMed Link: 33536433

Variant Present in the following documents:

• 41523_2021_218_MOESM2_ESM.xlsx, sheet 1

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A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology

Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2020-02

Variant appearance in text: APC: P441T

PubMed Link: 31844290

Variant Present in the following documents:

• NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 4

View BVdb publication page