Article

Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

2017-01-25

Abstract excerpt

With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. We developed a general method to better interpret the likelihood that a rare variant is disease causing if observed in a given gene or genic region mapping to a described protein domain, using genome-wide information from a large control...

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Literature Corpus work: 1945098d-7f28-5c44-a34a-45b817e74b88
DOI: 10.1101/103218

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