Article

Regulatory variants explain much more heritability than coding variants across 11 common diseases

2014-04-21

Abstract excerpt

Common variants implicated by genome-wide association studies (GWAS) of complex diseases are known to be enriched for coding and regulatory variants. We applied methods to partition the heritability explained by genotyped SNPs (h2g) across functional categories (while accounting for shared variance due to linkage disequilibrium) to genotype and imputed data for 11 common diseases. DNaseI Hypersensitivity Sites (DH...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e8fa12c8-e6c3-5829-b4ed-37415e8cb300
DOI: 10.1101/004309

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Regulatory variants explain much more heritability than coding variants across 11 common diseasesDOI 10.1101/004309Read

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.Semantic proximity Read

Partitioning heritability by functional category using GWAS summary statisticsSemantic proximity Read

Partitioning heritability by functional annotation using genome-wide association summary statistics.Semantic proximity Read

Joint analysis of functional genomic data and genome-wide association studies of 18 human traits.Semantic proximity Read

HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease.Semantic proximity Read

Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.Semantic proximity Read

Joint analysis of functional genomic data and genome-wide association studies of 18 human traitsSemantic proximity Read

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritabilitySemantic proximity Read

Identifying independent causal cell types for human diseases and risk variantsSemantic proximity Read

Integrative tissue-specific functional annotations in the human genome provide novel insights on many complex traits and improve signal prioritization in genome wide association studiesSemantic proximity Read

Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies.Semantic proximity Read

Mapping functional non-coding variation in individual human genomes through haplotyping, multiomics, and deep learning.Semantic proximity Read