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Article

Assumptions about frequency-dependent architectures of complex traits bias measures of functional enrichment.

Genetic epidemiology - 1 Sept 2021

Zabad Shadi, Ragsdale Aaron P, Sun Rosie, Li Yue, Gravel Simon

Abstract excerpt

Linkage-Disequilibrium Score Regression (LDSC) is a popular framework for analyzing Genome-wide Association Studies (GWAS) summary statistics that allows for estimating single nucleotide polymorphism heritability, confounding, and functional enrichment of genetic variants with different annotations. Recent work has highlighted the influence of implicit and explicit assumptions of the model on the biological...

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PMID: 34157784
DOI: 10.1002/gepi.22388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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