Genomics of disease risk in globally diverse populations

Genome-wide comparison of allele-specific gene expression between African and European populations

(2018) Lei Tian et al.   HUMAN MOLECULAR GENETICS

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

(2018) Farhad Hormozdiari et al.   NATURE GENETICS

Ancient genomes document multiple waves of migration in Southeast Asian prehistory

(2018) Mark Lipson et al.   SCIENCE

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

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

Genetic architecture of gene expression traits across diverse populations

(2018) Lauren S. Mogil et al.   PLoS Genetics

Reconstructing the Deep Population History of Central and South America

(2018) Cosimo Posth et al.   CELL

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

(2018) Alice B. Popejoy et al.   HUMAN MUTATION

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

Evaluating genetic susceptibility to Staphylococcus aureus bacteremia in African Americans using admixture mapping

(2017) D D Cyr et al.   GENES AND IMMUNITY

Multiethnic polygenic risk scores improve risk prediction in diverse populations

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

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

(2017) Reedik Mägi et al.   HUMAN MOLECULAR GENETICS

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

Archaic Hominin Introgression in Africa Contributes to Functional Salivary MUC7 Genetic Variation

(2017) Duo Xu et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Prioritizing diversity in human genomics research

(2017) Lucia A. Hindorff et al.   NATURE REVIEWS GENETICS

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos

(2017) Chani J. Hodonsky et al.   PLoS Genetics

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

(2017) Eleanor Wheeler et al.   PLOS MEDICINE

Transethnic Genetic-Correlation Estimates from Summary Statistics

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

Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism

(2016) Frank Rühle et al.   BLOOD

The Combined Landscape of Denisovan and Neanderthal Ancestry in Present-Day Humans

(2016) Sriram Sankararaman et al.   CURRENT BIOLOGY

Trans-ethnic study design approaches for fine-mapping

(2016) Jennifer L Asimit et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility

(2016) James P Cook et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation of a Two-Stage Approach in Trans-Ethnic Meta-Analysis in Genome-Wide Association Studies

(2016) Jaeyoung Hong et al.   GENETIC EPIDEMIOLOGY

Epigenetic Variability across Human Populations: A Focus on DNA Methylation Profiles of theKRTCAP3,MAD1L1andBRSK2Genes

(2016) Cristina Giuliani et al.   Genome Biology and Evolution

Very low-depth sequencing in a founder population identifies a cardioprotectiveAPOC3signal missed by genome-wide imputation

(2016) Arthur Gilly et al.   HUMAN MOLECULAR GENETICS

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

(2016) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

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

Explicating heterogeneity of complex traits has strong potential for improving GWAS efficiency

(2016) Alexander M. Kulminski et al.   Scientific Reports

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

Malaria continues to select for sickle cell trait in Central Africa

(2015) Eric Elguero et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

G6PD deficiency: a polymorphism balanced by heterozygote advantage against malaria

(2015) Lucio Luzzatto   Lancet Haematology

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

The African Genome Variation Project shapes medical genetics in Africa

(2014) Deepti Gurdasani et al.   NATURE

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

(2014) Ida Moltke et al.   NATURE

Reappraisal of known malaria resistance loci in a large multicenter study

(2014) Kirk A Rockett et al.   NATURE GENETICS

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

(2014) Anubha Mahajan et al.   NATURE GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Enabling the genomic revolution in Africa

(2014) et al.   SCIENCE

Toward a new history and geography of human genes informed by ancient DNA

(2014) Joseph K. Pickrell et al.   TRENDS IN GENETICS

Transcriptome Sequencing from Diverse Human Populations Reveals Differentiated Regulatory Architecture

(2014) Alicia R. Martin et al.   PLoS Genetics

Genome-Wide Variation of Cytosine Modifications Between European and African Populations and the Implications for Complex Traits

(2013) Erika L. Moen et al.   GENETICS

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

(2013) Zhao Chen et al.   HUMAN MOLECULAR GENETICS

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Meta-analysis methods for genome-wide association studies and beyond

(2013) Evangelos Evangelou et al.   NATURE REVIEWS GENETICS

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants

(2013) Urko M. Marigorta et al.   PLoS Genetics

Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers

(2012) Joseph Lachance et al.   CELL

Consistent Directions of Effect for Established Type 2 Diabetes Risk Variants Across Populations: The Population Architecture using Genomics and Epidemiology (PAGE) Consortium

(2012) C. A. Haiman et al.   DIABETES

Resistance to malaria in humans: the impact of strong, recent selection

(2012) Philip W Hedrick   MALARIA JOURNAL

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

Population-specificity of human DNA methylation

(2012) Hunter B Fraser et al.   GENOME BIOLOGY

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

(2011) E. M. Rohlfs et al.   CLINICAL CHEMISTRY

Consistency of genome-wide associations across major ancestral groups

(2011) Evangelia E. Ntzani et al.   HUMAN GENETICS

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

(2011) Michael V Holmes et al.   LANCET

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Genetic evidence for archaic admixture in Africa

(2011) M. F. Hammer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Parallel Adaptive Divergence among Geographically Diverse Human Populations

(2011) Jacob A. Tennessen et al.   PLoS Genetics

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent Findings in the Genetics of Blood Pressure and Hypertension Traits

(2010) N. Franceschini et al.   AMERICAN JOURNAL OF HYPERTENSION

The inherited diseases of hemoglobin are an emerging global health burden

(2010) D. J. Weatherall   BLOOD

Parallel Adaptation: One or Many Waves of Advance of an Advantageous Allele?

(2010) P. Ralph et al.   GENETICS

Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis

(2010) Yonghong Li et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Genome-wide association studies in diverse populations

(2010) Noah A. Rosenberg et al.   NATURE REVIEWS GENETICS

Multiethnic Genetic Association Studies Improve Power for Locus Discovery

(2010) Sara L. Pulit et al.   PLoS One

Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups

(2010) Kevin M. Waters et al.   PLoS Genetics

Consanguinity and susceptibility to infectious diseases in humans

(2009) E. J. Lyons et al.   Biology Letters

Genetic Ancestry, Population Admixture, and the Genetic Epidemiology of Complex Disease

(2009) Daniel L. Dries   Circulation-Cardiovascular Genetics

Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease

(2009) M. L. Scherer et al.   JOURNAL OF MEDICAL GENETICS

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

(2009) Perundurai S Dhandapany et al.   NATURE GENETICS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Ethnic Differences in Cardiovascular Drug Response

(2008) Julie A. Johnson   CIRCULATION

Genome-Wide Linkage and Admixture Mapping of Type 2 Diabetes in African American Families From the American Diabetes Association GENNID (Genetics of NIDDM) Study Cohort

(2008) S. C. Elbein et al.   DIABETES

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus

(2008) Kazuki Yasuda et al.   NATURE GENETICS

SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

(2008) Hiroyuki Unoki et al.   NATURE GENETICS

Required sample size and nonreplicability thresholds for heterogeneous genetic associations

(2008) R. Moonesinghe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

Isolated populations and complex disease gene identification

(2008) Kati Kristiansson et al.   GENOME BIOLOGY

Ethnic differences in the relationship of carotid atherosclerosis to coronary calcification: The Multi-Ethnic Study of Atherosclerosis

(2007) Teri A. Manolio et al.   ATHEROSCLEROSIS