Article
Protocol for identifying genetic modifiers of phenotypes in individuals with disease-associated variants.
STAR protocols - 19 Jun 2026
Smolen Corrine, Jensen Matthew, Girirajan Santhosh
Abstract excerpt
The variable expressivity of disease-associated variants suggests a role for secondary variants in modifying the clinical presentation of these primary variants. Here, we present a protocol for identifying associations of secondary variants with phenotypes. We describe steps for prioritizing distinct classes of secondary variants throughout the genome. We then detail statistical procedures for finding...
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