The GenomeAsia 100K Project enables genetic discoveries across Asia

Clinical use of current polygenic risk scores may exacerbate health disparities

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

The Emergence of Genomic Research in Africa and New Frameworks for Equity in Biomedical Research

(2019) Amy R. Bentley et al.   ETHNICITY & DISEASE

A new species of Homo from the Late Pleistocene of the Philippines

(2019) Florent Détroit et al.   NATURE

Roadmap for a precision-medicine initiative in the Nordic region

(2019) Pål Rasmus Njølstad et al.   NATURE GENETICS

Exome sequencing of Finnish isolates enhances rare-variant association power

(2019) Adam E. Locke et al.   NATURE

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

(2018) Viswanathan Mohan et al.   BMC Medical Genetics

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

(2018) Todd Lencz et al.   HUMAN GENETICS

Ancient genomes from Iceland reveal the making of a human population

(2018) S. Sunna Ebenesersdóttir et al.   SCIENCE

Combination of the Searches for Pair-Produced Vectorlike Partners of the Third-Generation Quarks at s=13  TeV with the ATLAS Detector

(2018) M. Aaboud et al.   PHYSICAL REVIEW LETTERS

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

(2017) Himanshu Chheda et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

(2017) Mario Mitt 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

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

(2017) Danish Saleheen et al.   NATURE

The promise of discovering population-specific disease-associated genes in South Asia

(2017) Nathan Nakatsuka et al.   NATURE GENETICS

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

(2017) Lorraine Southam et al.   Nature Communications

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

(2016) Sriram Sankararaman et al.   CURRENT BIOLOGY

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

(2016) Imran S. Haque et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

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

Reference-based phasing using the Haplotype Reference Consortium panel

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

Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals

(2016) B. Vernot et al.   SCIENCE

Sambamba: fast processing of NGS alignment formats

(2015) Artem Tarasov et al.   BIOINFORMATICS

Unravelling the Genetic History of Negritos and Indigenous Populations of Southeast Asia

(2015) Farhang Aghakhanian et al.   Genome Biology and Evolution

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

(2015) Stacy Steinberg et al.   NATURE GENETICS

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

SAMBLASTER: fast duplicate marking and structural variant read extraction

(2014) G. G. Faust et al.   BIOINFORMATICS

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing

(2014) Aaron Chapla et al.   CLINICAL ENDOCRINOLOGY

The African Genome Variation Project shapes medical genetics in Africa

(2014) Deepti Gurdasani et al.   NATURE

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

(2014) Laurent C Francioli et al.   NATURE GENETICS

Inferring human population size and separation history from multiple genome sequences

(2014) Stephan Schiffels et al.   NATURE GENETICS

A Genomic View of the Peopling and Population Structure of India: Figure 1.

(2014) Partha P. Majumder et al.   Cold Spring Harbor Perspectives in Biology

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Insights into the Genetic Structure and Diversity of 38 South Asian Indians from Deep Whole-Genome Sequencing

(2014) Lai-Ping Wong et al.   PLoS Genetics

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

(2013) Lai-Ping Wong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

(2013) Anne Polvi et al.   HUMAN MUTATION

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

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

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Pharmacogenetics at 50: Genomic Personalization Comes of Age

(2012) T. J. Urban et al.   Science Translational Medicine

The UK Adult Twin Registry (TwinsUK Resource)

(2012) Alireza Moayyeri et al.   Twin Research and Human Genetics

Chapter 7: Pharmacogenomics

(2012) Konrad J. Karczewski et al.   PLoS Computational Biology

Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania

(2011) David Reich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 Genotypes and Warfarin Dosing

(2011) J A Johnson et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up

(2011) Z. Chen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Genetics, Medicine, and the Plain People

(2009) Kevin A. Strauss et al.   Annual Review of Genomics and Human Genetics

Fast model-based estimation of ancestry in unrelated individuals

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

Reconstructing Indian population history

(2009) David Reich et al.   NATURE

Mapping Human Genetic Diversity in Asia

(2009) et al.   SCIENCE