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Public Databases Aim to Match Myriad's Closely-Held Knowledge of BRCA Mutations



June 11, 2014 | In the effort to empower clinical geneticists with reliable public data on which genetic variants should be labeled pathogenic, mutations to the breast cancer-related BRCA1 and BRCA2 genes have been among the heaviest points of contention. The most extensive knowledge base of BRCA mutations resides in the private silos of Myriad Genetics, which held a patent on the BRCA genes until the Supreme Court struck down the practice of patenting naturally-occurring genes one year ago. Now, Heidi Rehm tells Nature News that she expects ClinVar, a public database for which she has been a key advocate, to surpass Myriad's data on BRCA within one year. (For an overview of the drive for clinical-grade variant databases, including comments from Heidi Rehm, see the Bio-IT World feature "As Genetics Moves to the Clinics, Pathogenic Variants Still Subject to Doubt and Debate.") Nature News
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