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: POLE: R494Q; rs192173820

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine

Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q

Publication Date: 2021-09

Variant appearance in text: POLE: R494Q

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2

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Evaluation of molecular subtypes and clonal selection during establishment of patient-derived tumor xenografts from gastric adenocarcinoma.

Communications Biology

Peille, Anne-Lise AL; Vuaroqueaux, Vincent V; Wong, Swee-Seong SS; Ting, Jason J; Klingner, Kerstin K; Zeitouni, Bruno B; Landesfeind, Manuel M; Kim, Woo Ho WH; Lee, Hyuk-Joon HJ; Kong, Seong-Ho SH; Wulur, Isabella I; Bray, Steven S; Bronsert, Peter P; Zanella, Nina N; Donoho, Greg G; Yang, Han-Kwang HK; Fiebig, Heinz-Herbert HH; Reinhard, Christoph C; Aggarwal, Amit A

Publication Date: 2020-07-09

Variant appearance in text: POLE: R494Q

PubMed Link: 32647357

Variant Present in the following documents:

• 42003_2020_Article_1077.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs192173820

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page