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Article

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues.

Nature genetics - 1 Dec 2017

Brown Andrew Anand, Viñuela Ana, Delaneau Olivier, Spector Tim D, Small Kerrin S, Dermitzakis Emmanouil T

Abstract excerpt

Genetic association mapping produces statistical links between phenotypes and genomic regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) can help by providing complete knowledge of all genetic variants, but it is financially prohibitive for well-powered GWAS studies. We performed mapping of expression quantitative trait loci (eQTLs) with WGS and RNA-seq, and found that lead...

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Identifiers

PMID: 29058714
DOI: 10.1038/ng.3979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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