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: D1131E; rs750084800

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: POLE: 3393C>G; D1131E; rs750084800

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene.

Cancer Medicine

Hino, Hitoshi H; Shiomi, Akio A; Kusuhara, Masatoshi M; Kagawa, Hiroyasu H; Yamakawa, Yushi Y; Hatakeyama, Keiichi K; Kawabata, Takanori T; Oishi, Takuma T; Urakami, Kenichi K; Nagashima, Takeshi T; Kinugasa, Yusuke Y; Yamaguchi, Ken K

Publication Date: 2019-08

Variant appearance in text: POLE: D1131E

PubMed Link: 31240875

Variant Present in the following documents:

• Main text
• CAM4-8-4587.pdf

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: POLE: D1131E

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page