Article

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

2020-09-24

Abstract excerpt

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier will develop the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabe...

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Literature Corpus work: 2c8ef48e-1cf8-53ca-9226-bcb111e0bc96
DOI: 10.1101/2020.09.22.20195529

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