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Article

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

Nature genetics - 1 Apr 2018

Finucane Hilary K, Reshef Yakir A, Anttila Verneri, Slowikowski Kamil, Gusev Alexander, Byrnes Andrea, Gazal Steven, Loh Po-Ru, Lareau Caleb, Shoresh Noam, Genovese Giulio, Saunders Arpiar, Macosko Evan, Pollack Samuela, Perry John R B, Buenrostro Jason D, Bernstein Bradley E, Raychaudhuri Soumya, McCarroll Steven, Neale Benjamin M, Price Alkes L

Abstract excerpt

We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratified linkage disequilibrium (LD) score regression to test whether disease heritability is enriched in regions surrounding genes with the highest specific expression in a given tissue. We applied our approach to...

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Identifiers

PMID: 29632380
DOI: 10.1038/s41588-018-0081-4
PMCID: PMC5896795

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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