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Article

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.

American journal of human genetics - 2 Jul 2026

Baya Nikolas A, Lassen Frederik H, Hill Barney, Venkatesh Samvida S, Currant Hannah, Lindgren Cecilia M, Palmer Duncan S

Abstract excerpt

Polygenic scores (PGSs) stratify disease risk but often fail to capture individual variation. "Misaligned" individuals, whose observed phenotypes deviate from their genetically expected values based on PGS, provide a powerful model for identifying factors beyond common-variant effects, including additional genetic factors. Here, we apply misalignment classification and enrichment testing frameworks to seven...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42330953
DOI: 10.1016/j.ajhg.2026.05.013
PMCID: PMC13504349

Genes

ACAN
ACSL6
ANGPTL3
COPB2
FBN1
GORAB
HNF1A
HNF4A
IGF1
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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