Article

Identifying independent causal cell types for human diseases and risk variants

2024-05-18

Abstract excerpt

The SNP-heritability of human diseases is extremely enriched in candidate regulatory elements (cREs) from disease-relevant cell types. Critical next steps are to understand whether these enrichments are driven by multiple causal cell types and whether individual variants impact disease risk via a single or multiple of cell types. Here, we propose CT-FM and CT-FM-SNP, 2 methods accounting for cREs shared across cel...

Topics

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

Identifiers and source

Literature Corpus work: 1436b24a-5791-5997-9594-b9a312c3ed2e
DOI: 10.1101/2024.05.17.24307556

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identifying independent causal cell types for human diseases and risk variantsDOI 10.1101/2024.05.17.24307556Read

Partitioning heritability by functional category using GWAS summary statisticsSemantic proximity Read

scRiskDB: a single-cell epigenomic resource linking complex traits to regulatory mechanisms across human tissues.Semantic proximity Read

Functional enrichments of disease variants across thousands of independent loci in eight diseasesSemantic proximity Read

Disentangling effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complex trait lociSemantic proximity Read

Linking common and rare disease genetics through gene regulatory networksSemantic proximity Read

Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicitySemantic proximity Read

Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human geneticsSemantic proximity Read

A global overview of pleiotropy and genetic architecture in complex traitsSemantic proximity Read

Functionally informed fine-mapping and polygenic localization of complex trait heritability.Semantic proximity Read

Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks.Semantic proximity Read

Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits.Semantic proximity Read

Conditional polygenic enrichment distinguishes causal from tagging disease-critical cell populations in single-cell RNA-seqSemantic proximity Read