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

GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits

(2020) Nana Matoba et al.   Nature Human Behaviour

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

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer’s disease

(2019) Yuya Asanomi et al.   MOLECULAR MEDICINE

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Reconciling S-LDSC and LDAK functional enrichment estimates

(2019) Steven Gazal et al.   NATURE GENETICS

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

(2018) Masahiro Kanai et al.   NATURE GENETICS

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

(2018) Fredrick R. Schumacher et al.   NATURE GENETICS

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

(2018) Yukinori Okada et al.   Nature Communications

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

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

(2018) Wei Zhou et al.   NATURE GENETICS

The Role of the Microbiome in Asthma: The Gut–Lung Axis

(2018) Franco Frati et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

The wide spectrum of POT1 gene variants correlates with multiple cancer types

(2017) Oriol Calvete et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

Cross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseases

(2017) Makoto Hirata 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

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

(2017) Pim van der Harst et al.   CIRCULATION RESEARCH

repgenHMM: a dynamic programming tool to infer the rules of immune receptor generation from sequence data

(2016) Yuval Elhanati et al.   BIOINFORMATICS

The Genetics of Transcription Factor DNA Binding Variation

(2016) Bart Deplancke et al.   CELL

Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk EstimatesCLINICAL PERSPECTIVE

(2016) Iftikhar J. Kullo et al.   CIRCULATION

A functional variant ofATG16L2is associated with Crohn's disease in the Chinese population

(2016) T. Ma et al.   Colorectal Disease

The Tohoku Medical Megabank Project: Design and Mission

(2016) Shinichi Kuriyama et al.   JOURNAL OF EPIDEMIOLOGY

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

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

(2016) Zhihong Zhu et al.   NATURE GENETICS

Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

(2016) Paige Maas et al.   JAMA Oncology

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

(2015) Kyle J Gaulton et al.   NATURE GENETICS

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

(2015) Hilary K Finucane et al.   NATURE GENETICS

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

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Visualizing genomic information across chromosomes with PhenoGram

(2013) Daniel Wolfe et al.   BioData Mining

Mice Lacking Hypertension Candidate Gene ATP2B1 in Vascular Smooth Muscle Cells Show Significant Blood Pressure Elevation

(2012) Yusuke Kobayashi et al.   HYPERTENSION

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

PH Domain-Only Protein PHLDA3 Is a p53-Regulated Repressor of Akt

(2009) Tatsuya Kawase et al.   CELL

Akt Blockade Downregulates Collagen and Upregulates MMP1 in Human Dermal Fibroblasts

(2008) Andreea M. Bujor et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY