Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

(2018) Pirro G. Hysi et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

(2018) Alessia Visconti et al.   Nature Communications

Contributions by MC1R Variants to Melanoma Risk in Males and Females

(2018) Judith Wendt et al.   JAMA Dermatology

Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci

(2018) Boxiang Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identifyingcis-mediators fortrans-eQTLs across many human tissues using genomic mediation analysis

(2017) Fan Yang et al.   GENOME RESEARCH

Characterisingcis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues

(2017) Mingfeng Zhang et al.   GUT

Common genetic variation drives molecular heterogeneity in human iPSCs

(2017) Helena Kilpinen et al.   NATURE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF

(2017) Jiyeon Choi et al.   NATURE GENETICS

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

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

Colocalization of GWAS and eQTL Signals Detects Target Genes

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

Complex Sources of Variation in Tissue Expression Data: Analysis of the GTEx Lung Transcriptome

(2016) Matthew N. McCall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Interferon-Stimulated Genes with Antiretroviral Activity

(2016) Melissa Kane et al.   Cell Host & Microbe

Next-generation genotype imputation service and methods

(2016) Sayantan Das 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

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Fast and efficient QTL mapper for thousands of molecular phenotypes

(2015) Halit Ongen et al.   BIOINFORMATICS

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

(2015) Fan Liu et al.   HUMAN GENETICS

A Genome-Wide Association Study Identifies the Skin Color Genes IRF4 , MC1R , ASIP , and BNC2 Influencing Facial Pigmented Spots

(2015) Leonie C. Jacobs et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

(2015) Matthew H Law et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

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

(2015) Eric R Gamazon et al.   NATURE GENETICS

Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci

(2015) Eilis Hannon et al.   NATURE NEUROSCIENCE

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

(2015) et al.   SCIENCE

Developmental pathways activated in melanocytes and melanoma

(2014) Jianglan Liu et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

From genome to function by studying eQTLs

(2014) Harm-Jan Westra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

IRF4 at the crossroads of effector T-cell fate decision

(2014) Magdalena Huber et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Putative cis-regulatory drivers in colorectal cancer

(2014) Halit Ongen et al.   NATURE

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

(2014) Alfonso Buil et al.   NATURE GENETICS

Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer

(2014) Brian M Wolpin et al.   NATURE GENETICS

Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue

(2014) Jianxin Shi et al.   Nature Communications

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

(2013) Christian Praetorius et al.   CELL

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans

(2013) Mingfeng Zhang et al.   HUMAN MOLECULAR GENETICS

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

(2012) A. A. Shabalin   BIOINFORMATICS

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

(2012) David S. DeLuca et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   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

HOCOMOCO: a comprehensive collection of human transcription factor binding sites models

(2012) Ivan V. Kulakovskiy et al.   NUCLEIC ACIDS RESEARCH

Mechanisms of Protein Delivery to Melanosomes in Pigment Cells

(2012) Anand Sitaram et al.   PHYSIOLOGY

Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations

(2012) Sophie I. Candille et al.   PLoS One

Genome-wide association study identifies nidogen 1 ( NID1 ) as a susceptibility locus to cutaneous nevi and melanoma risk

(2011) Hongmei Nan et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†

(2011) Christopher I. Amos et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies three new melanoma susceptibility loci

(2011) Jennifer H Barrett et al.   NATURE GENETICS

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

(2011) Stuart MacGregor et al.   NATURE GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

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

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

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

(2010) Oliver Stegle et al.   PLoS Computational Biology

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

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

Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

(2010) Nicholas Eriksson et al.   PLoS Genetics

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry

(2009) Hongmei Nan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma

(2009) David L. Duffy et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

(2009) Mario Falchi et al.   NATURE GENETICS

Genome-wide association study identifies three loci associated with melanoma risk

(2009) D Timothy Bishop et al.   NATURE GENETICS

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

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

(2009) A. S. Dimas et al.   SCIENCE

Common sequence variants on 20q11.22 confer melanoma susceptibility

(2008) Kevin M Brown et al.   NATURE GENETICS

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

(2008) Daniel F Gudbjartsson et al.   NATURE GENETICS

Two newly identified genetic determinants of pigmentation in Europeans

(2008) Patrick Sulem et al.   NATURE GENETICS

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

(2008) Jiali Han et al.   PLoS Genetics