Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

Genome-Wide Association Studies Identify Multiple Genetic Loci Influencing Eyebrow Color Variation in Europeans

(2019) Fuduan Peng et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A genome-wide association study of skin and iris pigmentation among individuals of South Asian ancestry

(2019) Manjari Jonnalagadda et al.   Genome Biology and Evolution

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

(2018) Milly S. Tedja et al.   NATURE GENETICS

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

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

(2018) Alessia Visconti et al.   Nature Communications

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

(2018) Mitja Mitrovič et al.   CELL

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

(2018) Michael D. Morgan et al.   Nature Communications

Prioritizing diversity in human genomics research

(2017) Lucia A. Hindorff et al.   NATURE REVIEWS GENETICS

The colours of humanity: the evolution of pigmentation in the human lineage

(2017) Nina G. Jablonski et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

(2016) Jie Zheng et al.   BIOINFORMATICS

Association of iris surface features with iris parameters assessed by swept-source optical coherence tomography in Asian eyes

(2016) Tin A Tun et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma

(2016) Harvind S. Chahal et al.   Nature Communications

Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response

(2016) Q S Li et al.   Translational Psychiatry

The Rotterdam Study: 2016 objectives and design update

(2015) Albert Hofman et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

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

(2015) Fan Liu et al.   HUMAN GENETICS

Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis

(2015) Bethann S. Hromatka et al.   HUMAN MOLECULAR GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms

(2015) Melissa Edwards et al.   Pigment Cell & Melanoma Research

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

(2015) et al.   SCIENCE

minimac2: faster genotype imputation

(2014) Christian Fuchsberger et al.   BIOINFORMATICS

Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage

(2014) Susan Walsh et al.   Forensic Science International-Genetics

Identification of the remains of King Richard III

(2014) Turi E. King et al.   Nature Communications

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

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism

(2013) Ai-Hua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Seeing is believing

(2013) Luc G Berthiaume   Nature Chemical Biology

Raine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults

(2013) Seyhan Yazar et al.   OPHTHALMIC GENETICS

Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia

(2013) Amy K. Kiefer et al.   PLoS Genetics

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

(2012) M. Visser et al.   GENOME RESEARCH

Cohort Profile: TwinsUK and Healthy Ageing Twin Study

(2012) A. Moayyeri et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Cohort Profile: The Avon Longitudinal Study of Parents and Children: ALSPAC mothers cohort

(2012) A. Fraser et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children

(2012) Andy Boyd et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

PGC-1 Coactivators Regulate MITF and the Tanning Response

(2012) Jonathan Shoag et al.   MOLECULAR CELL

Zhou et al. reply

(2012) Kaixin Zhou et al.   NATURE GENETICS

Genome-wide efficient mixed-model analysis for association studies

(2012) Xiang Zhou et al.   NATURE GENETICS

Cryptic Distant Relatives Are Common in Both Isolated and Cosmopolitan Genetic Samples

(2012) Brenna M. Henn et al.   PLoS One

Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci

(2012) Nicholas Eriksson et al.   PLoS One

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

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

GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development

(2011) Mats Larsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular signatures database (MSigDB) 3.0

(2011) A. Liberzon et al.   BIOINFORMATICS

A global view of the OCA2-HERC2 region and pigmentation

(2011) Michael P. Donnelly et al.   HUMAN GENETICS

Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations

(2011) R Dorajoo et al.   INTERNATIONAL JOURNAL OF OBESITY

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data

(2011) Joyce Y. Tung et al.   PLoS One

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

(2011) Chuong B. Do et al.   PLoS Genetics

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information

(2010) Susan Walsh et al.   Forensic Science International-Genetics

Control of melanocyte differentiation by a MITF-PDE4D3 homeostatic circuit

(2010) M. Khaled et al.   GENES & DEVELOPMENT

MKK6 increases the melanocyte dendricity through the regulation of Rho family GTPases

(2010) Mi Yoon Kim et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci

(2010) Fan Liu et al.   PLoS Genetics

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

(2010) Ayellet V. Segrè 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

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

(2010) Nicholas Eriksson et al.   PLoS Genetics

Eye color and the prediction of complex phenotypes from genotypes

(2009) Fan Liu et al.   CURRENT BIOLOGY

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

(2009) Karol Estrada et al.   HUMAN MOLECULAR GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Methodology of the Singapore Indian Chinese Cohort (SICC) Eye Study: Quantifying ethnic variations in the epidemiology of eye diseases in Asians

(2009) Raghavan Lavanya et al.   OPHTHALMIC EPIDEMIOLOGY

Genetics of human iris colour and patterns

(2009) Richard A. Sturm et al.   Pigment Cell & Melanoma Research

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

(2008) Manfred Kayser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations

(2008) Emiliano Giardina et al.   CURRENT GENOMICS

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

(2008) Hans Eiberg et al.   HUMAN GENETICS

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

(2008) Jiali Han et al.   PLoS Genetics