Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements

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

(2020) Kazuyoshi Ishigaki et al.   NATURE GENETICS

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

(2019) Seth A. Sharp et al.   DIABETES CARE

Selene: a PyTorch-based deep learning library for sequence data

(2019) Kathleen M. Chen et al.   NATURE METHODS

Clinical use of current polygenic risk scores may exacerbate health disparities

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

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors

(2019) Tiffany Amariuta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trans Effects on Gene Expression Can Drive Omnigenic Inheritance

(2019) Xuanyao Liu et al.   CELL

Genomics of disease risk in globally diverse populations

(2019) Deepti Gurdasani et al.   NATURE REVIEWS GENETICS

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations

(2019) Roseann E. Peterson et al.   CELL

Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis

(2019) Tiffany Amariuta et al.   IMMUNOLOGICAL REVIEWS

Comparative genetic architectures of schizophrenia in East Asian and European populations

(2019) Max Lam et al.   NATURE GENETICS

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

(2019) Masato Akiyama et al.   Nature Communications

Sequential regulatory activity prediction across chromosomes with convolutional neural networks

(2018) David R. Kelley et al.   GENOME RESEARCH

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

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

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

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

The Evolving Erythrocyte: Red Blood Cells as Modulators of Innate Immunity

(2018) H. Luke Anderson et al.   JOURNAL OF IMMUNOLOGY

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

(2018) Yakir A. Reshef et al.   NATURE GENETICS

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

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

Polygenic risk score for schizophrenia is more strongly associated with ancestry than with schizophrenia

(2018) David Curtis   PSYCHIATRIC GENETICS

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

(2018) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Multiethnic polygenic risk scores improve risk prediction in diverse populations

(2017) Carla Márquez-Luna et al.   GENETIC EPIDEMIOLOGY

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

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

(2017) Steven Gazal et al.   NATURE GENETICS

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

(2017) Masato Akiyama et al.   NATURE GENETICS

Concepts, estimation and interpretation of SNP-based heritability

(2017) Jian Yang et al.   NATURE GENETICS

Leveraging functional annotations in genetic risk prediction for human complex diseases

(2017) Yiming Hu et al.   PLoS Computational Biology

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

(2016) Iftikhar J. Kullo et al.   CIRCULATION

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Weighted enrichment method for prediction of transcription regulators from transcriptome and global chromatin immunoprecipitation data

(2016) Eiryo Kawakami et al.   NUCLEIC ACIDS RESEARCH

Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

(2016) Alexander Gusev et al.   Nature Communications

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

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

Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies

(2015) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

(2015) Hilary K Finucane 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

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

Crosstalk between Red Blood Cells and the Immune System and Its Impact on Atherosclerosis

(2015) Brigitta Buttari et al.   Biomed Research International

B Cells Play Key Roles in Th2-Type Airway Immune Responses in Mice Exposed to Natural Airborne Allergens

(2015) Li Yin Drake et al.   PLoS One

Adipose Tissue, Muscle, and Function: Potential Mediators of Associations Between Body Weight and Mortality in Older Adults With Type 2 Diabetes

(2014) Rachel A. Murphy et al.   DIABETES CARE

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies

(2013) Nilanjan Chatterjee et al.   NATURE GENETICS

A Better Coefficient of Determination for Genetic Profile Analysis

(2012) Sang Hong Lee et al.   GENETIC EPIDEMIOLOGY

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Mechanisms Limiting Body Growth in Mammals

(2011) Julian C. Lui et al.   ENDOCRINE REVIEWS

RELATION BETWEEN BODY HEIGHT AND REPLICATIVE CAPACITY OF HUMAN FIBROBLASTS IN NONAGENARIANS

(2011) A. B. Maier et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE