Article

The impact of rare variation on gene expression across tissues

2016-09-09

Abstract excerpt

Rare genetic variants are abundant in humans yet their functional effects are often unknown and challenging to predict. The Genotype-Tissue Expression (GTEx) project provides a unique opportunity to identify the functional impact of rare variants through combined analyses of whole genomes and multi-tissue RNA-sequencing data. Here, we identify gene expression outliers, or individuals with extreme expression levels...

Topics

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

Identifiers and source

Literature Corpus work: 0047426c-0e73-508f-a5a4-6b686e15d44e
DOI: 10.1101/074443

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The impact of rare variation on gene expression across tissuesDOI 10.1101/074443Read

The impact of rare variation on gene expression across tissues.Semantic proximity Read

Diverse transcriptomic signatures across human tissues identify functional rare genetic variationSemantic proximity Read

Transcriptomic signatures across human tissues identify functional rare genetic variation.Semantic proximity Read

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genesSemantic proximity Read

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression DataSemantic proximity Read

Rare and common regulatory variation in population-scale sequenced human genomes.Semantic proximity Read

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patientsSemantic proximity Read

Aberrant expression prediction across human tissuesSemantic proximity Read

A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood.Semantic proximity Read

Widespread naturally variable human exons aid genetic interpretationSemantic proximity Read

Allelic expression of deleterious protein-coding variants across human tissues.Semantic proximity Read

Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.Semantic proximity Read