Article

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

2024-08-28

Abstract excerpt

<h4>SUMMARY</h4> Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary variants. Among 132 families with the 16p12.1 deletion, distinct rare and common variant classes conferred risk for specific developmental features, including short tandem...

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Literature Corpus work: 0f15df91-2e90-504d-9cbe-d608c668b8e9
DOI: 10.1101/2024.08.27.24312158

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