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: KRAS: F156V; rs397517042

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine

Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM

Publication Date: 2020-12-10

Variant appearance in text: rs397517042

PubMed Link: 33303739

Variant Present in the following documents:

• Main text
• 41525_2020_Article_161.pdf

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Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine

Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J

Publication Date: 2020-11

Variant appearance in text: rs397517042

PubMed Link: 33252848

Variant Present in the following documents:

• CTM2-10-e222-s003.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: F156V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: KRAS: F156V; rs397517042

PubMed Link: 31117243

Variant Present in the following documents:

• Main text

View BVdb publication page