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: rs587778538

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: rs587778538

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: rs587778538

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2

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Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Frontiers In Oncology

Rizzolo, Piera P; Silvestri, Valentina V; Bucalo, Agostino A; Zelli, Veronica V; Valentini, Virginia V; Catucci, Irene I; Zanna, Ines I; Masala, Giovanna G; Bianchi, Simonetta S; Spinelli, Alessandro Mauro AM; Tommasi, Stefania S; Tibiletti, Maria Grazia MG; Russo, Antonio A; Varesco, Liliana L; Coppa, Anna A; Calistri, Daniele D; Cortesi, Laura L; Viel, Alessandra A; Bonanni, Bernardo B; Azzollini, Jacopo J; Manoukian, Siranoush S; Montagna, Marco M; Radice, Paolo P; Palli, Domenico D; Peterlongo, Paolo P; Ottini, Laura L

Publication Date: 2018

Variant appearance in text: rs587778538

PubMed Link: 30564557

Variant Present in the following documents:

• Main text
• fonc-08-00583.pdf

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MUTYH: S318L

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page