Leveraging cancer mutation data to inform the pathogenicity classification of germline missense vari...
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
About this item
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Author / Creator
Haque, Bushra , Cheerie, David , Pan, Amy , Curtis, Meredith , Nalpathamkalam, Thomas , Nguyen, Jimmy , Salhab, Celine , Thiruvahindrapuram, Bhooma , Zhang, Jade , Couse, Madeline , Hartley, Taila , Morrow, Michelle M. , Price, E. Magda , Walker, Susan , Malkin, David , Roth, Frederick P. and Costain, Gregory
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpreta...
Alternative Titles
Full title
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_9c554e515294402182af80e03d47c5fc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9c554e515294402182af80e03d47c5fc
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1011540
