A cross-population atlas of genetic associations for 220 human phenotypes

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans

(2020) Sarah A. Pendergrass et al.   PLoS One

Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD

(2020) Daniel I. Chasman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

(2020) Saori Sakaue et al.   NATURE MEDICINE

Index and biological spectrum of human DNase I hypersensitive sites

(2020) Wouter Meuleman et al.   NATURE

Exploring and visualizing large-scale genetic associations by using PheWeb

(2020) Sarah A. Gagliano Taliun et al.   NATURE GENETICS

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

(2020) Kazuyoshi Ishigaki et al.   NATURE GENETICS

Genomewide Association Study of Severe Covid-19 with Respiratory Failure

(2020) David Ellinghaus et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population

(2019) Jun Hirata et al.   NATURE GENETICS

GREP: Genome for REPositioning drugs

(2019) Saori Sakaue et al.   BIOINFORMATICS

Genome-wide association study of medication-use and associated disease in the UK Biobank

(2019) Yeda Wu et al.   Nature Communications

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Characterizing rare and low-frequency height-associated variants in the Japanese population

(2019) Masato Akiyama et al.   Nature Communications

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

(2019) Yosuke Tanigawa et al.   Nature Communications

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger

(2018) Anurag Verma et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai 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

Analysis of shared heritability in common disorders of the brain

(2018) et al.   SCIENCE

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

(2018) Yukinori Okada et al.   Nature Communications

Evaluation and application of summary statistic imputation to discover new height-associated loci

(2018) Sina Rüeger et al.   PLoS Genetics

The Association of Sjögren Syndrome and Autoimmune Thyroid Disorders

(2018) Chiara Baldini et al.   Frontiers in Endocrinology

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

Trends in incidence and mortality of tuberculosis in Japan: a population-based study, 1997–2016

(2018) H. Hagiya et al.   EPIDEMIOLOGY AND INFECTION

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

Discovery of susceptibility loci associated with tuberculosis in Han Chinese

(2017) Hui Qi et al.   HUMAN MOLECULAR GENETICS

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

(2017) Steven Gazal et al.   NATURE GENETICS

jMorp: Japanese Multi Omics Reference Panel

(2017) Shu Tadaka et al.   NUCLEIC ACIDS RESEARCH

Transethnic Genetic-Correlation Estimates from Summary Statistics

(2016) Brielin C. Brown et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

The Tohoku Medical Megabank Project: Design and Mission

(2016) Shinichi Kuriyama et al.   JOURNAL OF EPIDEMIOLOGY

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

(2016) Gardar Sveinbjornsson et al.   NATURE GENETICS

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

An atlas of genetic correlations across human diseases and traits

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

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

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

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

An atlas of genetic influences on human blood metabolites

(2014) So-Youn Shin et al.   NATURE GENETICS

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

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

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

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens

(2013) Xiaoming Jia et al.   PLoS One

Intestinal absorption, hepatic synthesis, and biliary secretion of cholesterol: Where are we for cholesterol gallstone formation?

(2012) Piero Portincasa et al.   HEPATOLOGY

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

ABO blood group alleles and the risk of pancreatic cancer in a Japanese population

(2011) Makoto Nakao et al.   CANCER SCIENCE

Risk of Gastric Cancer and Peptic Ulcers in Relation to ABO Blood Type: A Cohort Study

(2010) G. Edgren et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

(2010) Marylyn D. Ritchie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

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

IgE, mast cells, basophils, and eosinophils

(2010) Kelly D. Stone et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY