Article

Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease

2025-12-31

Abstract excerpt

Polygenic scores (PGS) predict complex traits and stratify disease risk but often fail to fully capture individual-level variation. “Misaligned” individuals, whose observed phenotypes deviate from their genetically expected values based on polygenic scores (PGS), provide a powerful model for identifying factors beyond common-variant effects, including additional genetic factors. Here, we apply misalignment classif...

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Literature Corpus work: c58e42ab-80c1-555a-b373-eb957028ebca
DOI: 10.64898/2025.12.30.25343229

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