Genetic association of molecular traits: A help to identify causative variants in complex diseases

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the KidneyNovelty and Significance

(2017) Louise V. Wain et al.   HYPERTENSION

Multiplexed Engineering and Analysis of Combinatorial Enhancer Activity in Single Cells

(2017) Shiqi Xie et al.   MOLECULAR CELL

In Retrospect: A decade of shared genomic associations

(2017) Teri A. Manolio   NATURE

Fine-mapping inflammatory bowel disease loci to single-variant resolution

(2017) Hailiang Huang et al.   NATURE

An atlas of human long non-coding RNAs with accurate 5′ ends

(2017) Chung-Chau Hon et al.   NATURE

Common genetic variation drives molecular heterogeneity in human iPSCs

(2017) Helena Kilpinen et al.   NATURE

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

(2017) Barbara E Stranger et al.   NATURE GENETICS

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types

(2017) Sung Chun et al.   NATURE GENETICS

Identification of sequence variants influencing immunoglobulin levels

(2017) Stefan Jonsson et al.   NATURE GENETICS

Genome-wide characterization of mammalian promoters with distal enhancer functions

(2017) Lan T M Dao et al.   NATURE GENETICS

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

Associating cellular epigenetic models with human phenotypes

(2017) Tuuli Lappalainen et al.   NATURE REVIEWS GENETICS

Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci

(2017) Atsushi Takata et al.   Nature Communications

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

(2017) Sarah Kim-Hellmuth et al.   Nature Communications

Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization

(2017) Xiaoquan Wen et al.   PLoS Genetics

Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation

(2016) Catherine Do et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Colocalization of GWAS and eQTL Signals Detects Target Genes

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

Pooled ChIP-Seq Links Variation in Transcription Factor Binding to Complex Disease Risk

(2016) Ashley K. Tehranchi et al.   CELL

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

(2016) Lu Chen et al.   CELL

Histone Acetylome-wide Association Study of Autism Spectrum Disorder

(2016) Wenjie Sun et al.   CELL

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens

(2016) Yohann Nédélec et al.   CELL

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

(2016) Hélène Quach et al.   CELL

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans

(2016) Yang Li et al.   CELL

High-throughput allele-specific expression across 250 environmental conditions

(2016) Gregory A. Moyerbrailean et al.   GENOME RESEARCH

Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility

(2016) Ramesh Ram et al.   JOURNAL OF IMMUNOLOGY

Genetic variants regulating expression levels and isoform diversity during embryogenesis

(2016) Enrico Cannavò et al.   NATURE

Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota

(2016) Jun Wang et al.   NATURE GENETICS

The effect of host genetics on the gut microbiome

(2016) Marc Jan Bonder et al.   NATURE GENETICS

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

Association of host genome with intestinal microbial composition in a large healthy cohort

(2016) Williams Turpin et al.   NATURE GENETICS

Disease variants alter transcription factor levels and methylation of their binding sites

(2016) Marc Jan Bonder et al.   NATURE GENETICS

Identification of context-dependent expression quantitative trait loci in whole blood

(2016) Daria V Zhernakova et al.   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Gene expression elucidates functional impact of polygenic risk for schizophrenia

(2016) Menachem Fromer et al.   NATURE NEUROSCIENCE

From profiles to function in epigenomics

(2016) Stefan H. Stricker et al.   NATURE REVIEWS GENETICS

Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases

(2016) O. Franzen et al.   SCIENCE

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Epigenome-wide Association Studies and the Interpretation of Disease -Omics

(2016) Ewan Birney et al.   PLoS Genetics

Genomic landscape of the individual host response and outcomes in sepsis: a prospective cohort study

(2016) Emma E Davenport et al.   Lancet Respiratory Medicine

Shotgun Metagenomics of 250 Adult Twins Reveals Genetic and Environmental Impacts on the Gut Microbiome

(2016) Hailiang Xie et al.   Cell Systems

Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions

(2015) Fabian Grubert et al.   CELL

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

(2015) Sebastian M. Waszak et al.   CELL

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

(2015) Can Cenik et al.   GENOME RESEARCH

Genetics of human metabolism: an update

(2015) Gabi Kastenmüller et al.   HUMAN MOLECULAR GENETICS

Identification of common genetic variants controlling transcript isoform variation in human whole blood

(2015) Xiaoling Zhang et al.   NATURE GENETICS

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

(2015) Eric R Gamazon et al.   NATURE GENETICS

Methods of integrating data to uncover genotype–phenotype interactions

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

The role of regulatory variation in complex traits and disease

(2015) Frank W. Albert et al.   NATURE REVIEWS GENETICS

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2015) et al.   SCIENCE

Genome-wide identification of microRNA expression quantitative trait loci

(2015) Tianxiao Huan et al.   Nature Communications

Human Genetics Shape the Gut Microbiome

(2014) Julia K. Goodrich et al.   CELL

Genetics of gene expression in immunity to infection

(2014) Benjamin P Fairfax et al.   CURRENT OPINION IN IMMUNOLOGY

Detection and replication of epistasis influencing transcription in humans

(2014) Gibran Hemani et al.   NATURE

Another explanation for apparent epistasis

(2014) Andrew R. Wood et al.   NATURE

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

Genetic and epigenetic fine mapping of causal autoimmune disease variants

(2014) Kyle Kai-How Farh et al.   NATURE

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

(2014) Alfonso Buil et al.   NATURE GENETICS

Impact of regulatory variation from RNA to protein

(2014) A. Battle et al.   SCIENCE

Identification of genetic variants associated with alternative splicing using sQTLseekeR

(2014) Jean Monlong et al.   Nature Communications

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

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS

(2013) Xin He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

(2013) Konstantin Popadin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Additive, Epistatic, and Environmental Effects Through the Lens of Expression Variability QTL in a Twin Cohort

(2013) G. Wang et al.   GENETICS

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

(2013) A. Battle et al.   GENOME RESEARCH

BLUEPRINT: mapping human blood cell epigenomes

(2013) J. H. A. Martens et al.   HAEMATOLOGICA

Sex- and age-interacting eQTLs in human complex diseases

(2013) Chen Yao et al.   HUMAN MOLECULAR 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

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

(2013) Harm-Jan Westra et al.   NATURE GENETICS

Extensive Variation in Chromatin States Across Humans

(2013) M. Kasowski et al.   SCIENCE

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

(2013) H. Kilpinen et al.   SCIENCE

Identification of Genetic Variants That Affect Histone Modifications in Human Cells

(2013) G. McVicker et al.   SCIENCE

Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression

(2013) Vinod Kumar et al.   PLoS Genetics

Detection and Impact of Rare Regulatory Variants in Human Disease

(2013) Xin Li et al.   Frontiers in Genetics

Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits

(2012) Eric R. Gamazon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Variants Contribute to Gene Expression Variability in Humans

(2012) A. M. Hulse et al.   GENETICS

Impact of microRNA regulation on variation in human gene expression

(2012) J. Lu et al.   GENOME RESEARCH

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Interrogating the major histocompatibility complex with high-throughput genomics

(2012) P. I. W. de Bakker et al.   HUMAN MOLECULAR GENETICS

FTO genotype is associated with phenotypic variability of body mass index

(2012) Jian Yang et al.   NATURE

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

(2012) Jacob F. Degner et al.   NATURE

Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles

(2012) Benjamin P Fairfax et al.   NATURE GENETICS

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

The Contribution of RNA Decay Quantitative Trait Loci to Inter-Individual Variation in Steady-State Gene Expression Levels

(2012) Athma A. Pai et al.   PLoS Genetics

Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease

(2011) Tuuli Lappalainen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

(2011) C. Vandiedonck et al.   GENOME RESEARCH

The effects of EBV transformation on gene expression levels and methylation profiles

(2011) Minal Çalışkan et al.   HUMAN MOLECULAR GENETICS

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

(2011) Andrew R. Wood et al.   HUMAN MOLECULAR GENETICS

From expression QTLs to personalized transcriptomics

(2011) Stephen B. Montgomery et al.   NATURE REVIEWS GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study

(2011) Alexandra C. Nica et al.   PLoS Genetics

Genome-Wide Association Study of White Blood Cell Count in 16,388 African Americans: the Continental Origins and Genetic Epidemiology Network (COGENT)

(2011) Alexander P. Reiner et al.   PLoS Genetics

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

(2011) Jordana T Bell et al.   GENOME BIOLOGY

Global Epigenomic Analysis of Primary Human Pancreatic Islets Provides Insights into Type 2 Diabetes Susceptibility Loci

(2010) Michael L. Stitzel et al.   Cell Metabolism

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Tackling the epigenome: challenges and opportunities for collaboration

(2010) John S Satterlee et al.   NATURE BIOTECHNOLOGY

A map of open chromatin in human pancreatic islets

(2010) Kyle J Gaulton et al.   NATURE GENETICS

A Large-Scale, Consortium-Based Genomewide Association Study of Asthma

(2010) Miriam F. Moffatt et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) Alexandra C. Nica 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

Genes determining blood cell traits

(2009) Nancy C Andrews   NATURE GENETICS

A genome-wide perspective of genetic variation in human metabolism

(2009) Thomas Illig et al.   NATURE GENETICS

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

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) A. S. Dimas et al.   SCIENCE

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE

Mapping the Genetic Architecture of Gene Expression in Human Liver

(2008) Eric E Schadt et al.   PLOS BIOLOGY

Modifier Effects between Regulatory and Protein-Coding Variation

(2008) Antigone S. Dimas et al.   PLoS Genetics

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

(2008) David Melzer et al.   PLoS Genetics