@article{4a99faa925fc4a4bb5c9447a91cd1223,
title = "Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types",
abstract = "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 gene expression data from several sources together with GWAS summary statistics for 48 diseases and traits (average N = 169,331) and found significant tissue-specific enrichments (false discovery rate (FDR) ",
keywords = "Bipolar Disorder/genetics, Body Mass Index, Brain/metabolism, Chromatin/genetics, Epigenesis, Genetic, Gene Expression, Gene Expression Profiling/statistics & numerical data, Genetic Predisposition to Disease, Genome-Wide Association Study/statistics & numerical data, Humans, Immune System Diseases/genetics, Linkage Disequilibrium, Models, Genetic, Multifactorial Inheritance, Neurons/metabolism, Schizophrenia/genetics, Tissue Distribution/genetics, METAANALYSIS, SUSCEPTIBILITY LOCI, GENOME-WIDE ASSOCIATION, PARTITIONING HERITABILITY, SCHIZOPHRENIA, BIPOLAR DISORDER, PREFRONTAL CORTEX, RISK LOCI, BODY-MASS INDEX, COMPLEX TRAITS",
author = "Finucane, {Hilary K} and Reshef, {Yakir A} and Verneri Anttila and Kamil Slowikowski and Alexander Gusev and Andrea Byrnes and Steven Gazal and Po-Ru Loh and Caleb Lareau and Noam Shoresh and Giulio Genovese and Arpiar Saunders and Evan Macosko and Samuela Pollack and Brainstorm Consortium and Perry, {John R B} and Buenrostro, {Jason D} and Bernstein, {Bradley E} and Soumya Raychaudhuri and Steven McCarroll and Neale, {Benjamin M} and Price, {Alkes L} and Jakob Grove and {Brainstorm Consortium} and S{\o}ren Dalsgaard",
year = "2018",
doi = "10.1038/s41588-018-0081-4",
language = "English",
volume = "50",
pages = "621--629",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",
}