Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease

Colocalization of GWAS and eQTL Signals Detects Target Genes

(2016) Farhad Hormozdiari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population

(2016) Sujatha Jagannathan et al.   GENOME RESEARCH

OASIS: web-based platform for exploring cancer multi-omics data

(2016) Julio Fernandez-Banet et al.   NATURE METHODS

Novel Luminex Assay for Telomere Repeat Mass Does Not Show Well Position Effects Like qPCR

(2016) Muhammad G. Kibriya et al.   PLoS One

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Imprinted genes and imprinting control regions show predominant intermediate methylation in adult somatic tissues

(2016) Natalia Pervjakova et al.   Epigenomics

Telomere Length and the Cancer–Atherosclerosis Trade-Off

(2016) Rivka C. Stone et al.   PLoS Genetics

Cross-tissue Analysis of Gene and Protein Expression in Normal and Cancer Tissues

(2016) Idit Kosti et al.   Scientific Reports

Assessing allele-specific expression across multiple tissues from RNA-seq read data

(2015) Matti Pirinen et al.   BIOINFORMATICS

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

Molecular and Genetic Properties of Tumors Associated with Local Immune Cytolytic Activity

(2015) Michael S. Rooney et al.   CELL

The landscape of genomic imprinting across diverse adult human tissues

(2015) Yael Baran et al.   GENOME RESEARCH

Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans

(2015) Can Cenik et al.   GENOME RESEARCH

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo

(2015) Matthew T Maurano et al.   NATURE GENETICS

Fine-mapping cellular QTLs with RASQUAL and ATAC-seq

(2015) Natsuhiko Kumasaka et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

WASP: allele-specific software for robust molecular quantitative trait locus discovery

(2015) Bryce van de Geijn et al.   NATURE METHODS

Methods of integrating data to uncover genotype–phenotype interactions

(2015) Marylyn D. Ritchie et al.   NATURE REVIEWS GENETICS

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

(2015) Neelroop N. Parikshak et al.   NATURE REVIEWS GENETICS

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

(2015) M. A. Rivas et al.   SCIENCE

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

(2015) et al.   SCIENCE

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

Role of DNA Methylation in Modulating Transcription Factor Occupancy

(2015) Matthew T. Maurano et al.   Cell Reports

Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

(2015) Maria Gutierrez-Arcelus et al.   PLoS Genetics

Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signaling Protein Levels

(2014) Ronald J. Hause et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Measurement of Telomere Length: A New Assay Using QuantiGene Chemistry on a Luminex Platform

(2014) M. G. Kibriya et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Impact of regulatory variation from RNA to protein

(2014) A. Battle et al.   SCIENCE

Leucocyte telomere length and risk of cardiovascular disease: systematic review and meta-analysis

(2014) P. C. Haycock et al.   BMJ-British Medical Journal

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

(2014) Kimberly R. Kukurba et al.   PLoS Genetics

Methylation QTLs Are Associated with Coordinated Changes in Transcription Factor Binding, Histone Modifications, and Gene Expression Levels

(2014) Nicholas E. Banovich et al.   PLoS Genetics

Variation and genetic control of protein abundance in humans

(2013) Linfeng Wu et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing

(2013) Rui Zhang et al.   NATURE METHODS

Systems genetics approaches to understand complex traits

(2013) Mete Civelek et al.   NATURE REVIEWS GENETICS

Extensive Variation in Chromatin States Across Humans

(2013) M. Kasowski et al.   SCIENCE

Identification of Genetic Variants That Affect Histone Modifications in Human Cells

(2013) G. McVicker et al.   SCIENCE

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

(2013) Maria Gutierrez-Arcelus et al.   eLife

Comprehensive Analysis of mRNA Methylation Reveals Enrichment in 3′ UTRs and near Stop Codons

(2012) Kate D. Meyer et al.   CELL

Translating cancer 'omics' to improved outcomes

(2012) E. A. Vucic et al.   GENOME RESEARCH

An expansive human regulatory lexicon encoded in transcription factor footprints

(2012) Shane Neph et al.   NATURE

DNase I sensitivity QTLs are a major determinant of human expression variation

(2012) Jacob F. Degner et al.   NATURE

Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq

(2012) Dan Dominissini et al.   NATURE

Extensive genetic variation in somatic human tissues

(2012) M. O'Huallachain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Stitching together Multiple Data Dimensions Reveals Interacting Metabolomic and Transcriptomic Networks That Modulate Cell Regulation

(2012) Jun Zhu et al.   PLOS BIOLOGY

A Statistical Framework for eQTL Mapping Using RNA-seq Data

(2011) Wei Sun   BIOMETRICS

Regulation of chromatin by histone modifications

(2011) Andrew J Bannister et al.   CELL RESEARCH

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

(2011) Jason Ernst et al.   NATURE

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

(2011) Jordana T Bell et al.   GENOME BIOLOGY

Systems analysis of EGF receptor signaling dynamics with microwestern arrays

(2010) Mark F Ciaccio et al.   NATURE METHODS

Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations

(2010) Alexandra C. Nica et al.   PLoS Genetics

Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain

(2010) J. Raphael Gibbs et al.   PLoS Genetics

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

X Chromosome Dosage Compensation: How Mammals Keep the Balance

(2008) Bernhard Payer et al.   Annual Review of Genetics