BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
About this item
Full title
Author / Creator
Cline, Melissa S , Liao, Rachel G , Parsons, Michael T , Paten, Benedict , Alquaddoomi, Faisal , Antoniou, Antonis , Baxter, Samantha , Brody, Larry , Cook-Deegan, Robert , Coffin, Amy , Couch, Fergus J , Craft, Brian , Currie, Robert , Dlott, Chloe C , Dolman, Lena , den Dunnen, Johan T , Dyke, Stephanie O M , Domchek, Susan M , Easton, Douglas , Fischmann, Zachary , Foulkes, William D , Garber, Judy , Goldgar, David , Goldman, Mary J , Goodhand, Peter , Harrison, Steven , Haussler, David , Kato, Kazuto , Knoppers, Bartha , Markello, Charles , Nussbaum, Robert , Offit, Kenneth , Plon, Sharon E , Rashbass, Jem , Rehm, Heidi L , Robson, Mark , Rubinstein, Wendy S , Stoppa-Lyonnet, Dominique , Tavtigian, Sean , Thorogood, Adrian , Zhang, Can , Zimmermann, Marc , Burn, John , Chanock, Stephen , Rätsch, Gunnar , Spurdle, Amanda B and BRCA Challenge Authors
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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More information
Scope and Contents
Contents
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project's outset, of which approximately 7,250 have expert cl...
Alternative Titles
Full title
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
Authors, Artists and Contributors
Author / Creator
Liao, Rachel G
Parsons, Michael T
Paten, Benedict
Alquaddoomi, Faisal
Antoniou, Antonis
Baxter, Samantha
Brody, Larry
Cook-Deegan, Robert
Coffin, Amy
Couch, Fergus J
Craft, Brian
Currie, Robert
Dlott, Chloe C
Dolman, Lena
den Dunnen, Johan T
Dyke, Stephanie O M
Domchek, Susan M
Easton, Douglas
Fischmann, Zachary
Foulkes, William D
Garber, Judy
Goldgar, David
Goldman, Mary J
Goodhand, Peter
Harrison, Steven
Haussler, David
Kato, Kazuto
Knoppers, Bartha
Markello, Charles
Nussbaum, Robert
Offit, Kenneth
Plon, Sharon E
Rashbass, Jem
Rehm, Heidi L
Robson, Mark
Rubinstein, Wendy S
Stoppa-Lyonnet, Dominique
Tavtigian, Sean
Thorogood, Adrian
Zhang, Can
Zimmermann, Marc
Burn, John
Chanock, Stephen
Rätsch, Gunnar
Spurdle, Amanda B
BRCA Challenge Authors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2251022703
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2251022703
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1007752
