Using game theory to thwart multistage privacy intrusions when sharing data
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Common genetic test often wrong when identifying rare disease-causing variants such as BRCA1 and BRCA2, study says
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Common genetic test often wrong when identifying rare disease-causing variants such as BRCA1 and BRCA2, study says
A genetic test used to detect common traits many people share is not reliable in identifying rare disease-causing variations, such as those that can predict breast and ovarian cancer, a new study has found.
The SNP test, which stands for “single nucleotide polymorphism,” is used by direct-to-consumer DNA and ancestry companies to identify common traits such as eye color, height and proclivity toward cheek dimples and dandruff, to name a few.
But when SNP tests are applied to identifying rare mutations that contribute to disease, the study found only 16% of nearly 5,000 rare mutations could be confirmed by