NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population

Twelve years of SAMtools and BCFtools

(2021) Petr Danecek et al.   GigaScience

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

(2020) Fan Zhang et al.   GENOME RESEARCH

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

(2020) Yanan Cao et al.   CELL RESEARCH

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Insights into human genetic variation and population history from 929 diverse genomes

(2020) Anders Bergström et al.   SCIENCE

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma

(2020) Lisa Mirabello et al.   JAMA Oncology

Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome

(2019) Zhenglin Du et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

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

(2019) Degang Wu et al.   CELL

PGG.Han: the Han Chinese genome database and analysis platform

(2019) Yang Gao et al.   NUCLEIC ACIDS RESEARCH

Accurate, scalable and integrative haplotype estimation

(2019) Olivier Delaneau et al.   Nature Communications

The GenomeAsia 100K Project enables genetic discoveries across Asia

(2019)   NATURE

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms

(2018) Sudhir Kumar et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

Genome-wide screening for functional long noncoding RNAs in human cells by Cas9 targeting of splice sites

(2018) Ying Liu et al.   NATURE BIOTECHNOLOGY

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

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

(2017) Lasse Maretty 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

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

NONCODEV5: a comprehensive annotation database for long non-coding RNAs

(2017) ShuangSang Fang et al.   NUCLEIC ACIDS RESEARCH

Deep whole-genome sequencing of 90 Han Chinese genomes

(2017) Tianming Lan et al.   GigaScience

Taiwan Biobank: making cross-database convergence possible in the Big Data era

(2017) Jui-Chu Lin et al.   GigaScience

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

(2016) Peter Edge et al.   GENOME RESEARCH

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

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

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

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Strategies for Imputing and Analyzing Rare Variants in Association Studies

(2015) Thomas J. Hoffmann et al.   TRENDS IN GENETICS

Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

(2015) Elisabeth M. van Leeuwen et al.   Nature Communications

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

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

How important are rare variants in common disease?

(2014) A. Saint Pierre et al.   Briefings in Functional Genomics

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

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

(2014) Laurent C Francioli et al.   NATURE GENETICS

Y Chromosomes of 40% Chinese Descend from Three Neolithic Super-Grandfathers

(2014) Shi Yan et al.   PLoS One

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

(2014) Shai Carmi et al.   Nature Communications

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

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

Population Genetics of Rare Variants and Complex Diseases

(2013) M. Cyrus Maher et al.   HUMAN HEREDITY

Imputation of Rare Variants in Next-Generation Association Studies

(2013) Jennifer L. Asimit et al.   HUMAN HEREDITY

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Conserved Function of lincRNAs in Vertebrate Embryonic Development despite Rapid Sequence Evolution

(2011) Igor Ulitsky et al.   CELL

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 Human Genetic History of South Asia

(2010) Partha P. Majumder   CURRENT BIOLOGY

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

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

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

Fast model-based estimation of ancestry in unrelated individuals

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

Response to Price et al.

(2008) Hua Tang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-Range LD Can Confound Genome Scans in Admixed Populations

(2008) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE