Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

Negative selection on complex traits limits phenotype prediction accuracy between populations

(2021) Arun Durvasula et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population-specific causal disease effect sizes in functionally important regions impacted by selection

(2021) Huwenbo Shi et al.   Nature Communications

A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits

(2021) Mingxuan Cai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Incorporating European GWAS findings improve polygenic risk prediction accuracy of breast cancer among East Asians

(2021) Ying Ji et al.   GENETIC EPIDEMIOLOGY

Evaluation of polygenic prediction methodology within a reference-standardized framework

(2021) Oliver Pain et al.   PLoS Genetics

Improved genetic prediction of complex traits from individual-level data or summary statistics

(2021) Qianqian Zhang et al.   Nature Communications

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

(2021) Saori Sakaue et al.   NATURE GENETICS

Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

(2021) Carla Márquez-Luna et al.   Nature Communications

The GWAS Diversity Monitor tracks diversity by disease in real time

(2020) Melinda C. Mills et al.   NATURE GENETICS

Variable prediction accuracy of polygenic scores within an ancestry group

(2020) Hakhamanesh Mostafavi et al.   eLife

Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets

(2020) Sheng Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics

(2020) Sung Chun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Electronic health records and polygenic risk scores for predicting disease risk

(2020) Ruowang Li et al.   NATURE REVIEWS GENETICS

Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals

(2020) Davide Marnetto et al.   Nature Communications

Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations

(2020) Ying Wang et al.   Nature Communications

Generalizability of “GWAS Hits” in Clinical Populations: Lessons from Childhood Cancer Survivors

(2020) Cindy Im et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

(2020) Ming-Huei Chen et al.   CELL

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Polygenic Scores for Height in Admixed Populations

(2020) Bárbara D. Bitarello et al.   G3-Genes Genomes Genetics

A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank

(2020) Junyang Qian et al.   PLoS Genetics

Functionally informed fine-mapping and polygenic localization of complex trait heritability

(2020) Omer Weissbrod et al.   NATURE GENETICS

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

(2020) Tiffany Amariuta et al.   NATURE GENETICS

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

(2019) Armin P. Schoech et al.   Nature Communications

Efficient cross-trait penalized regression increases prediction accuracy in large cohorts using secondary phenotypes

(2019) Wonil Chung et al.   Nature Communications

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

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

Polygenic prediction via Bayesian regression and continuous shrinkage priors

(2019) Tian Ge et al.   Nature Communications

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

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

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

(2019) Max Lam et al.   BIOINFORMATICS

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

(2019) Roseann E. Peterson et al.   CELL

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

(2019) Deepti Gurdasani et al.   CELL

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

The transferability of lipid loci across African, Asian and European cohorts

(2019) Karoline Kuchenbaecker et al.   Nature Communications

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

(2019) Caroline M. Nievergelt et al.   Nature Communications

Improved polygenic prediction by Bayesian multiple regression on summary statistics

(2019) Luke R. Lloyd-Jones et al.   Nature Communications

Signatures of negative selection in the genetic architecture of human complex traits

(2018) Jian Zeng et al.   NATURE GENETICS

Mixed-model association for biobank-scale datasets

(2018) Po-Ru Loh et al.   NATURE GENETICS

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Global genetic differentiation of complex traits shaped by natural selection in humans

(2018) Jing Guo 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

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

(2018) Steven Gazal et al.   NATURE GENETICS

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Generalizing polygenic risk scores from Europeans to Hispanics/Latinos

(2018) Kelsey E. Grinde et al.   GENETIC EPIDEMIOLOGY

Estimating cross-population genetic correlations of causal effect sizes

(2018) Kevin J. Galinsky et al.   GENETIC EPIDEMIOLOGY

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Multiethnic polygenic risk scores improve risk prediction in diverse populations

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

Polygenic scores via penalized regression on summary statistics

(2017) Timothy Shin Heng Mak et al.   GENETIC EPIDEMIOLOGY

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

Leveraging functional annotations in genetic risk prediction for human complex diseases

(2017) Yiming Hu et al.   PLoS Computational Biology

Transethnic Genetic-Correlation Estimates from Summary Statistics

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

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Linear mixed model for heritability estimation that explicitly addresses environmental variation

(2016) David Heckerman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

The impact of low-frequency and rare variants on lipid levels

(2015) Ida Surakka et al.   NATURE GENETICS

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

(2015) Hilary K Finucane et al.   NATURE GENETICS

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

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

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

(2015) Momoko Horikoshi et al.   PLoS Genetics

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

(2015) Christopher C Chang et al.   GigaScience

Data sharing in large research consortia: experiences and recommendations from ENGAGE

(2013) Isabelle Budin-Ljøsne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The general population cohort in rural south-western Uganda: a platform for communicable and non-communicable disease studies

(2013) Gershim Asiki et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

GCTA: A Tool for Genome-wide Complex Trait Analysis

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

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

The Limits of Individual Identification from Sample Allele Frequencies: Theory and Statistical Analysis

(2009) Peter M. Visscher et al.   PLoS Genetics

Divergence between Human Populations Estimated from Linkage Disequilibrium

(2008) John A. Sved et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accuracy of Predicting the Genetic Risk of Disease Using a Genome-Wide Approach

(2008) Hans D. Daetwyler et al.   PLoS One