Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Genomic insights into the formation of human populations in East Asia

(2021) Chuan-Chao Wang et al.   NATURE

Complicated legacies: The human genome at 20

(2021) Kathryn Maxson Jones et al.   SCIENCE

Cohort profile: the Westlake BioBank for Chinese (WBBC) pilot project

(2021) Xiao-Wei Zhu et al.   BMJ Open

The Genome Sequence Archive Family: Toward Explosive Data Growth and Diverse Data Types

(2021) Tingting Chen et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Paleolithic to Bronze Age Siberians Reveal Connections with First Americans and across Eurasia

(2020) He Yu et al.   CELL

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals

(2020) Yanan Cao et al.   CELL RESEARCH

Ancient DNA indicates human population shifts and admixture in northern and southern China

(2020) Melinda A. Yang et al.   SCIENCE

Ancient genomes from northern China suggest links between subsistence changes and human migration

(2020) Chao Ning et al.   Nature Communications

Korean Genome Project: 1094 Korean personal genomes with clinical information

(2020) Sungwon Jeon et al.   Science Advances

IBDkin: fast estimation of kinship coefficients from identity by descent segments

(2020) Ying Zhou et al.   BIOINFORMATICS

Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia

(2020) Jon Riddell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SNX29, a new susceptibility gene shared with major mental disorders in Han Chinese population

(2020) Jian-Hua Chen et al.   WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

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

Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

(2019) Matteo Chiara et al.   GENETICS IN MEDICINE

The population history of northeastern Siberia since the Pleistocene

(2019) Martin Sikora et al.   NATURE

Ancient Genomes Reveal Yamnaya-Related Ancestry and a Potential Source of Indo-European Speakers in Iron Age Tianshan

(2019) Chao Ning et al.   CURRENT BIOLOGY

Genotype imputation and reference panel: a systematic evaluation on haplotype size and diversity

(2019) Wei-Yang Bai et al.   BRIEFINGS IN BIOINFORMATICS

Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

(2019) Degang Wu et al.   CELL

NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants

(2019) Seong-Keun Yoo et al.   Genome Medicine

The GenomeAsia 100K Project enables genetic discoveries across Asia

(2019)   NATURE

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

(2019) Madeline H. Kowalski et al.   PLoS Genetics

Genotype Imputation from Large Reference Panels

(2018) Sayantan Das et al.   Annual Review of Genomics and Human Genetics

137 ancient human genomes from across the Eurasian steppes

(2018) Peter de Barros Damgaard et al.   NATURE

Ancient genomes document multiple waves of migration in Southeast Asian prehistory

(2018) Mark Lipson et al.   SCIENCE

The prehistoric peopling of Southeast Asia

(2018) Hugh McColl 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

A One-Penny Imputed Genome from Next-Generation Reference Panels

(2018) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A comprehensive map of genetic variation in the world’s largest ethnic group - Han Chinese

(2018) Charleston W K Chiang et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

(2018) Siyang Liu et al.   CELL

Associations between DNAH1 gene polymorphisms and male infertility

(2018) Xiao Yang et al.   MEDICINE

Bronze Age population dynamics and the rise of dairy pastoralism on the eastern Eurasian steppe

(2018) Choongwon Jeong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Late Paleolithic industries of southern China (Lingnan region)

(2018) Guangmao Xie et al.   QUATERNARY INTERNATIONAL

DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population

(2017) Yanwei Sha et al.   FERTILITY AND STERILITY

Evidence for Very Recent Positive Selection in Mongolians

(2017) Kazuhiro Nakayama et al.   MOLECULAR BIOLOGY AND EVOLUTION

Tracing the peopling of the world through genomics

(2017) Rasmus Nielsen et al.   NATURE

Genetic architecture: the shape of the genetic contribution to human traits and disease

(2017) Nicholas J. Timpson et al.   NATURE REVIEWS GENETICS

Ancient genomes show social and reproductive behavior of early Upper Paleolithic foragers

(2017) Martin Sikora et al.   SCIENCE

Genetic variation in WDR1 is associated with gout risk and gout-related metabolic indices in the Han Chinese population

(2016) L.J. Liu et al.   GENETICS AND MOLECULAR RESEARCH

A partial nuclear genome of the Jomons who lived 3000 years ago in Fukushima, Japan

(2016) Hideaki Kanzawa-Kiriyama et al.   JOURNAL OF HUMAN GENETICS

rehh2.0: a reimplementation of the R packagerehhto detect positive selection from haplotype structure

(2016) Mathieu Gautier et al.   Molecular Ecology Resources

Genomics is failing on diversity

(2016) Alice B. Popejoy 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

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Robust and scalable inference of population history from hundreds of unphased whole genomes

(2016) Jonathan Terhorst et al.   NATURE GENETICS

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Sparse whole-genome sequencing identifies two loci for major depressive disorder

(2015) Na Cai et al.   NATURE

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

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

WDR1 and CLNK gene polymorphisms correlate with serum glucose and high-density lipoprotein levels in Tibetan gout patients

(2015) Bing Lan et al.   RHEUMATOLOGY INTERNATIONAL

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

(2015) Jie Huang et al.   Nature Communications

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

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

(2015) Christopher C Chang et al.   GigaScience

Analytical validation of whole exome and whole genome sequencing for clinical applications

(2014) Michael D Linderman et al.   BMC Medical Genomics

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Estimating Selection Coefficients in Spatially Structured Populations from Time Series Data of Allele Frequencies

(2013) I. Mathieson et al.   GENETICS

Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data

(2013) B. L. Browning et al.   GENETICS

The adaptive variant EDARV370A is associated with straight hair in East Asians

(2013) Jingze Tan et al.   HUMAN GENETICS

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ancient Admixture in Human History

(2012) N. Patterson et al.   GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data

(2012) Joseph K. Pickrell et al.   PLoS Genetics

ADH and ALDH Polymorphisms and Alcohol Dependence in Mexican and Native Americans

(2012) Cindy L. Ehlers et al.   AMERICAN JOURNAL OF DRUG AND ALCOHOL ABUSE

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry

(2011) L J Bierut et al.   MOLECULAR PSYCHIATRY

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

GCTA: A Tool for Genome-wide Complex Trait Analysis

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

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The ADH1B Arg47His polymorphism in East Asian populations and expansion of rice domestication in history

(2010) Yi Peng et al.   BMC EVOLUTIONARY BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

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

Genotype-Imputation Accuracy across Worldwide Human Populations

(2009) Lucy Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies

(2009) Shuhua Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation

(2009) Jieming Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Alcohol and genetic polymorphisms: effect on risk of alcohol-related cancer

(2009) Nathalie Druesne-Pecollo et al.   LANCET ONCOLOGY

Genome-wide association study of blood pressure and hypertension

(2009) Daniel Levy et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A Genealogical Interpretation of Principal Components Analysis

(2009) Gil McVean   PLoS Genetics

A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia

(2008) Akihiro Fujimoto et al.   HUMAN GENETICS

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

(2008) Chunyan Mou et al.   HUMAN MUTATION