4.8 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Multidisciplinary Sciences

Integrative analysis of 111 reference human epigenomes

Anshul Kundaje et al.

NATURE (2015)

Article Multidisciplinary Sciences

The human transcriptome across tissues and individuals

Marta Mele et al.

SCIENCE (2015)

Article Multidisciplinary Sciences

Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas et al.

SCIENCE (2015)

Article Biochemistry & Molecular Biology

Phenotype-Genotype Integrator (PheGenI): synthesizing genome- wide association study (GWAS) data with existing genomic resources

Erin M. Ramos et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Article Biochemistry & Molecular Biology

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

Alexis Battle et al.

GENOME RESEARCH (2014)

Article Medicine, General & Internal

Clinical Interpretation and Implications of Whole-Genome Sequencing

Frederick E. Dewey et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Genetics & Heredity

Heritability and genomics of gene expression in peripheral blood

Fred A. Wright et al.

NATURE GENETICS (2014)

Article Biochemistry & Molecular Biology

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

Danielle Welter et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Multidisciplinary Sciences

Identification of genetic variants associated with alternative splicing using sQTLseekeR

Jean Monlong et al.

NATURE COMMUNICATIONS (2014)

Article Biotechnology & Applied Microbiology

Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies

Nikolaos I. Panousis et al.

GENOME BIOLOGY (2014)

Article Multidisciplinary Sciences

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen et al.

NATURE (2013)

Editorial Material Genetics & Heredity

The Genotype-Tissue Expression (GTEx) project

John Lonsdale et al.

NATURE GENETICS (2013)

Article Genetics & Heredity

Systematic identification of trans eQTLs as putative drivers of known disease associations

Harm-Jan Westra et al.

NATURE GENETICS (2013)

Article Multidisciplinary Sciences

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

Ekta Khurana et al.

SCIENCE (2013)

Article Genetics & Heredity

A Statistical Framework for Joint eQTL Analysis in Multiple Tissues

Timothee Flutre et al.

PLOS GENETICS (2013)

Review Genetics & Heredity

Five Years of GWAS Discovery

Peter M. Visscher et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemical Research Methods

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

Andrey A. Shabalin

BIOINFORMATICS (2012)

Article Biochemical Research Methods

RNA-SeQC: RNA-seq metrics for quality control and process optimization

David S. DeLuca et al.

BIOINFORMATICS (2012)

Article Biochemical Research Methods

zCall: a rare variant caller for array-based genotyping

Jacqueline I. Goldstein et al.

BIOINFORMATICS (2012)

Article Biochemistry & Molecular Biology

GENCODE: The reference human genome annotation for The ENCODE Project

Jennifer Harrow et al.

GENOME RESEARCH (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Multidisciplinary Sciences

Architecture of the human regulatory network derived from ENCODE data

Mark B. Gerstein et al.

NATURE (2012)

Review Biotechnology & Applied Microbiology

Interpreting noncoding genetic variation in complex traits and human disease

Lucas D. Ward et al.

NATURE BIOTECHNOLOGY (2012)

Article Genetics & Heredity

Mapping cis- and trans-regulatory effects across multiple tissues in twins

Elin Grundberg et al.

NATURE GENETICS (2012)

Review Genetics & Heredity

Mechanisms and consequences of widespread random monoallelic expression

Andrew Chess

NATURE REVIEWS GENETICS (2012)

Article Multidisciplinary Sciences

The Evolutionary Landscape of Alternative Splicing in Vertebrate Species

Nuno L. Barbosa-Morais et al.

SCIENCE (2012)

Article Multidisciplinary Sciences

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

Matthew T. Maurano et al.

SCIENCE (2012)

Article Multidisciplinary Sciences

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur et al.

SCIENCE (2012)

Article Genetics & Heredity

Patterns of Cis Regulatory Variation in Diverse Human Populations

Barbara E. Stranger et al.

PLOS GENETICS (2012)

Article Biotechnology & Applied Microbiology

Dissecting the regulatory architecture of gene expression QTLs

Daniel J. Gaffney et al.

GENOME BIOLOGY (2012)

Article Multidisciplinary Sciences

Spatio-temporal transcriptome of the human brain

Hyo Jung Kang et al.

NATURE (2011)

Article Multidisciplinary Sciences

Mapping and analysis of chromatin state dynamics in nine human cell types

Jason Ernst et al.

NATURE (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Biochemical Research Methods

BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

The Pioneer Round of Translation: Features and Functions

Lynne E. Maquat et al.

Article Multidisciplinary Sciences

Transcriptome genetics using second generation sequencing in a Caucasian population

Stephen B. Montgomery et al.

NATURE (2010)

Article Multidisciplinary Sciences

Integrating common and rare genetic variation in diverse human populations

David M. Altshuler et al.

NATURE (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Biotechnology & Applied Microbiology

The NIH Roadmap Epigenomics Mapping Consortium

Bradley E. Bernstein et al.

NATURE BIOTECHNOLOGY (2010)

Article Genetics & Heredity

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

Benjamin F. Voight et al.

NATURE GENETICS (2010)

Article Biochemical Research Methods

TopHat: discovering splice junctions with RNA-Seq

Cole Trapnell et al.

BIOINFORMATICS (2009)

Article Genetics & Heredity

Common variants at ten loci influence QT interval duration in the QTGEN Study

Christopher Newton-Cheh et al.

NATURE GENETICS (2009)

Article Multidisciplinary Sciences

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

Lucia A. Hindorff et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Multidisciplinary Sciences

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

Antigone S. Dimas et al.

SCIENCE (2009)

Article Genetics & Heredity

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

Subra Kugathasan et al.

NATURE GENETICS (2008)

Article Biochemical Research Methods

Mapping and quantifying mammalian transcriptomes by RNA-Seq

Ali Mortazavi et al.

NATURE METHODS (2008)

Article Biochemical Research Methods

A General Definition and Nomenclature for Alternative Splicing Events

Michael Sammeth et al.

PLOS COMPUTATIONAL BIOLOGY (2008)

Article Genetics & Heredity

High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation

Jean-Baptiste Veyrieras et al.

PLOS GENETICS (2008)

Article Biochemical Research Methods

Defining clusters from a hierarchical cluster tree: the Dynamic Tree Cut package for R

Peter Langfelder et al.

BIOINFORMATICS (2008)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Genetics & Heredity

A new multipoint method for genome-wide association studies by imputation of genotypes

Jonathan Marchini et al.

NATURE GENETICS (2007)

Article Multidisciplinary Sciences

Genetic analysis of genome-wide variation in human gene expression

M Morley et al.

NATURE (2004)

Article Biotechnology & Applied Microbiology

Variation in alternative splicing across human tissues

G Yeo et al.

GENOME BIOLOGY (2004)

Article Multidisciplinary Sciences

Statistical significance for genomewide studies

JD Storey et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Article Multidisciplinary Sciences

Hierarchical organization of modularity in metabolic networks

E Ravasz et al.

SCIENCE (2002)

Article Statistics & Probability

A direct approach to false discovery rates

JD Storey

JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY (2002)