A Mendelian code for complex disease
نویسندگان
چکیده
منابع مشابه
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Although countless highly penetrant variants have been associated with Mendelian disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By mining the medical records of over 110 million patients, we examine the extent to which Mendelian variation contributes to complex disease risk. We detect thousands of associations between Mendelian and complex diseases, rev...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2013
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg3599