Article

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

2025-08-16

Abstract excerpt

Interpreting the effects of genetic variants remains a major challenge in recessive diseases, where clinical outcomes often depend on interactions between alleles. Multiplex assays of variant effects (MAVEs) measure variant function at scale, but nonlinear relationships with biochemical activity complicate the interpretation of MAVE scores. Here, we describe a broadly applicable approach to estimate enzymatic acti...

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Literature Corpus work: 3a24b65f-d845-5baf-b990-fb99cf76bded
DOI: 10.1101/2025.08.15.670494

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