Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

Comparison of HLA allelic imputation programs

(2017) Jason H. Karnes et al.   PLoS One

Potential Predictors of Poor Visual Outcome in Human Leukocyte Antigen-B27–Associated Uveitis

(2016) Fleurieke H. Verhagen et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

High-risk genotypes HLA-DR3-DQ2/DR3-DQ2 and DR3-DQ2/DR4-DQ8 in co-occurrence of type 1 diabetes and celiac disease

(2016) Darja Smigoc Schweiger et al.   AUTOIMMUNITY

Phenome-wide association study maps new diseases to the human major histocompatibility complex region

(2016) Jixia Liu et al.   JOURNAL OF MEDICAL GENETICS

Unravelling the human genome–phenome relationship using phenome-wide association studies

(2016) William S. Bush et al.   NATURE REVIEWS GENETICS

The phenotypic legacy of admixture between modern humans and Neandertals

(2016) C. N. Simonti et al.   SCIENCE

The amino acid variation within the binding pocket 7 and 9 of HLA-DRB1 molecules are associated with primary Sjögren's syndrome

(2015) Renliang Huang et al.   JOURNAL OF AUTOIMMUNITY

Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk

(2015) Xinli Hu et al.   NATURE GENETICS

Class II HLA interactions modulate genetic risk for multiple sclerosis

(2015) Loukas Moutsianas et al.   NATURE GENETICS

An HLA-C amino-acid variant in addition to HLA-B*27 confers risk for ankylosing spondylitis in the Korean population

(2015) Kwangwoo Kim et al.   ARTHRITIS RESEARCH & THERAPY

Fine Mapping Seronegative and Seropositive Rheumatoid Arthritis to Shared and Distinct HLA Alleles by Adjusting for the Effects of Heterogeneity

(2014) Buhm Han et al.   AMERICAN JOURNAL OF HUMAN GENETICS

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

(2014) Robert J. Carroll et al.   BIOINFORMATICS

CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles

(2014) Ingeborg Brønstad et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Multiple sclerosis genetics

(2014) Stephen Sawcer et al.   LANCET NEUROLOGY

Illumina human exome genotyping array clustering and quality control

(2014) Yan Guo et al.   Nature Protocols

Biobanks and Electronic Medical Records: Enabling Cost-Effective Research

(2014) E. Bowton et al.   Science Translational Medicine

Detection of Pleiotropy through a Phenome-Wide Association Study (PheWAS) of Epidemiologic Data as Part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study

(2014) Molly A. Hall et al.   PLoS Genetics

A PheWAS approach in studying HLA-DRB1*1501

(2013) S J Hebbring et al.   GENES AND IMMUNITY

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

Pleiotropy in complex traits: challenges and strategies

(2013) Nadia Solovieff et al.   NATURE REVIEWS GENETICS

Genetics and epigenetics of rheumatoid arthritis

(2013) Sebastien Viatte et al.   Nature Reviews Rheumatology

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

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

HIBAG—HLA genotype imputation with attribute bagging

(2013) X Zheng et al.   PHARMACOGENOMICS JOURNAL

Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens

(2013) Xiaoming Jia et al.   PLoS One

Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects

(2013) Nikolaos A. Patsopoulos et al.   PLoS Genetics

TATES: Efficient Multivariate Genotype-Phenotype Analysis for Genome-Wide Association Studies

(2013) Sophie van der Sluis et al.   PLoS Genetics

Classical HLA-DRB1 and DPB1 alleles account for HLA associations with primary biliary cirrhosis

(2012) P Invernizzi et al.   GENES AND IMMUNITY

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

(2012) Jimmy Z Liu et al.   NATURE GENETICS

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

(2012) Steve Eyre et al.   NATURE GENETICS

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis

(2012) Soumya Raychaudhuri et al.   NATURE GENETICS

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

(2012) Lam C Tsoi et al.   NATURE GENETICS

HLA and Sjögren's syndrome susceptibility. A meta-analysis of worldwide studies

(2011) Paola Cruz-Tapias et al.   AUTOIMMUNITY REVIEWS

HLA*IMP—an integrated framework for imputing classical HLA alleles from SNP genotypes

(2011) Alexander T. Dilthey et al.   BIOINFORMATICS

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

(2011) Catherine A McCarty et al.   BMC Medical Genomics

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

(2011) Rebecca L. Zuvich et al.   GENETIC EPIDEMIOLOGY

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

Pervasive Sharing of Genetic Effects in Autoimmune Disease

(2011) Chris Cotsapas et al.   PLoS Genetics

The prevalence of celiac disease in Europe: Results of a centralized, international mass screening project

(2010) Kirsi Mustalahti et al.   ANNALS OF MEDICINE

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

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

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine

(2008) DM Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk: Analysis of the Type 1 Diabetes Genetics Consortium Families

(2008) H. Erlich et al.   DIABETES

HLA-B*5701 Screening for Hypersensitivity to Abacavir

(2008) Simon Mallal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Defining the Role of the MHC in Autoimmunity: A Review and Pooled Analysis

(2008) Michelle M. A. Fernando et al.   PLoS Genetics