Article
Interpreting the functional impact of genetic variants: The need for context qualifiers.
American journal of human genetics - 8 Jan 2026
Martinelli Simone, Cavé Hélène, De Luca Alessandro, DiStefano Marina, Karchin Rachel, Lugones Ana Clara, O'Donnell-Luria Anne, Ritter Deborah I, Tamborero David, Tolstorukov Michael Y, Campregher Paulo Vidal, Tartaglia Marco, Sonkin Dmitriy
Abstract excerpt
Genetic alterations influence biological function through a variety of molecular mechanisms. While common functional descriptions (such as loss of function and gain of function) are useful, they may fail to capture mechanistic complexity, particularly in cases of pleiotropy and context-dependent variant effects. To improve variant interpretation and classification, we propose a framework incorporating "context...
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