BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
作者： Melissa S Cline , Rachel G Liao , Michael T Parsons , Benedict Paten , Faisal Alquaddoomi
DOI: 10.1371/JOURNAL.PGEN.1007752
关键词: Population 、 Data sharing 、 Data science 、 MEDLINE 、 Genomics 、 Biology 、 Patient advocacy 、 Information Dissemination 、 Leiden Open Variation Database 、 Resource (project management) 、 Genetics(clinical) 、 Genetics 、 Cancer research 、 Ecology, Evolution, Behavior and Systematics 、 Molecular biology
摘要: The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 BRCA2 data support highly collaborative research activities. Its goal generate an informed current understanding of impact genetic variation on cancer risk across iconic predisposition genes, BRCA2. Initially, reported variants in available from public databases were integrated into single, newly created site, www.brcaexchange.org. purpose Exchange provide community with reliable easily accessible record interpreted high-penetrance phenotype. More than 20,000 have been aggregated, three times number found next-largest database at project's outset, which approximately 7,250 expert classifications. set based shared information existing clinical databases-Breast Cancer Information Core (BIC), ClinVar, Leiden Open Variation Database (LOVD)-as well as population databases, all linked single point access. has brought together international Evidence-based Network Interpretation Germline Mutant Alleles (ENIGMA) consortium panel, along clinicians, diagnosticians, researchers, providers, common advancing our variation. Ongoing work includes direct contact national centers access diagnostic encourage sharing, development methods suitable extraction level individual laboratory reports, engagement participant communities enable more comprehensive significance
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