HIGHLIGHTS
- who: Julia K. Goodrich from the (UNIVERSITY) have published the article: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes, in the Journal: NATURE COMMUNICATIONS NATURE COMMUNICATIONS
- what: The approach was intended to capture high-confidence clinically significant variants, although notably excluded missense variants beyond those in the ClinVar database because of the low prior probability of disease relevance and the challenges of inferring pathogenicity for this variant class. The authors show here that with the exception of monogenic obesity, polygenic risk at the top 1% of the risk distribution . . .
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