scispace - formally typeset
Open AccessJournal ArticleDOI

The Genotype-Tissue Expression (GTEx) project

John T. Lonsdale, +129 more
- 29 May 2013 - 
- Vol. 45, Iss: 6, pp 580-585
TLDR
The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
Abstract: 
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

read more

Content maybe subject to copyright    Report

Citations
More filters
Journal ArticleDOI

GEPIA: a web server for cancer and normal gene expression profiling and interactive analyses.

Zefang Tang, +5 more
- 03 Jul 2017 - 
TL;DR: GEPIA (Gene Expression Profiling Interactive Analysis) fills in the gap between cancer genomics big data and the delivery of integrated information to end users, thus helping unleash the value of the current data resources.
Journal ArticleDOI

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

Daehwan Kim, +4 more
- 01 Aug 2019 - 
TL;DR: This work presents a method named HISAT2 (hierarchical indexing for spliced alignment of transcripts 2) that can align both DNA and RNA sequences using a graph Ferragina Manzini index, and uses it to represent and search an expanded model of the human reference genome.
Journal ArticleDOI

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie, +132 more
- 08 May 2015 - 
TL;DR: The landscape of gene expression across tissues is described, thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants are cataloged, complex network relationships are described, and signals from genome-wide association studies explained by eQTLs are identified.
Journal ArticleDOI

Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma

Anoop P. Patel, +19 more
- 20 Jun 2014 - 
TL;DR: The genome sequence of single cells isolated from brain glioblastomas was examined, which revealed shared chromosomal changes but also extensive transcription variation, including genes related to signaling, which represent potential therapeutic targets.
Journal ArticleDOI

10 Years of GWAS Discovery: Biology, Function, and Translation

Peter M. Visscher, +6 more
- 06 Jul 2017 - 
TL;DR: The remarkable range of discoveriesGWASs has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics are reviewed.
References
More filters
Journal Article

An integrated encyclopedia of DNA elements in the human genome.

ENCODEConsortium
- 01 Jan 2012 - 
TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal ArticleDOI

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Lucia A. Hindorff, +6 more
- 09 Jun 2009 - 
TL;DR: An online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs) is developed, well-suited to guide future investigations of the role of common variants in complex disease etiology.
Journal ArticleDOI

The NIH Roadmap Epigenomics Mapping Consortium

Bradley E. Bernstein, +14 more
- 01 Oct 2010 - 
TL;DR: The NIH Roadmap Epigenomics Mapping Consortium aims to produce a public resource of epigenomic maps for stem cells and primary ex vivo tissues selected to represent the normal counterparts of tissues and organ systems frequently involved in human disease.
Journal ArticleDOI

Genetic Mapping in Human Disease

David Altshuler, +3 more
- 07 Nov 2008 - 
TL;DR: The intellectual foundations of genetic mapping of Mendelian and complex traits in humans are discussed, lessons emerging from linkage analysis of MendELian diseases and genome-wide association studies of common diseases are examined, and questions and challenges that lie ahead are discussed.
Journal ArticleDOI

Understanding mechanisms underlying human gene expression variation with RNA sequencing

Joseph K. Pickrell, +9 more
- 01 Apr 2010 - 
TL;DR: It is demonstrated that eQTLs near genes generally act by a mechanism involving allele-specific expression, and that variation that influences the inclusion of an exon is enriched within and near the consensus splice sites.
Related Papers (5)

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, +17 more
- 01 Sep 2007 - 

An integrated encyclopedia of DNA elements in the human genome

Principal investigators, +3 more
- 06 Sep 2012 - 

A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin, +8 more
- 01 Jan 2013 - 

Tissue-based map of the human proteome

Mathias Uhlén, +38 more
- 23 Jan 2015 -