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

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

(2020) Fan Zhang et al.   GENOME RESEARCH

Evolutionary history of modern Samoans

(2020) Daniel N. Harris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A community-maintained standard library of population genetic models

(2020) Jeffrey R Adrion et al.   eLife

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

(2020) Alexander G. Bick et al.   NATURE

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

(2020) Xihao Li et al.   NATURE GENETICS

Characterizing the Major Structural Variant Alleles of the Human Genome

(2019) Peter A. Audano et al.   CELL

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

(2019) Seung‐been Lee et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent

(2019) Xiaowen Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Population Turnover in Remote Oceania Shortly after Initial Settlement

(2018) Mark Lipson et al.   CURRENT BIOLOGY

Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

(2018) Seung-been Lee et al.   GENETICS IN MEDICINE

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

(2018) Jakob M. Goldmann et al.   NATURE GENETICS

Human demographic history has amplified the effects of background selection across the genome

(2018) Raul Torres et al.   PLoS Genetics

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

(2018) Jedidiah Carlson et al.   Nature Communications

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

Genomic inference using diffusion models and the allele frequency spectrum

(2018) Aaron P. Ragsdale et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Assembly of a pan-genome from deep sequencing of 910 humans of African descent

(2018) Rachel M. Sherman et al.   NATURE GENETICS

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

Inferring the Joint Demographic History of Multiple Populations: Beyond the Diffusion Approximation

(2017) Julien Jouganous et al.   GENETICS

Assembly and analysis of 100 full MHC haplotypes from the Danish population

(2017) Jacob M. Jensen et al.   GENOME RESEARCH

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Diversity in non-repetitive human sequences not found in the reference genome

(2017) Birte Kehr et al.   NATURE GENETICS

OUP accepted manuscript

(2017)   NUCLEIC ACIDS RESEARCH

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

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

Inferring the Joint Demographic History of Multiple Populations: Beyond the Diffusion Approximation

(2017) Julien Jouganous et al.   GENETICS

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

(2016) Corneliu A. Bodea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effects of Linked Selective Sweeps on Demographic Inference and Model Selection

(2016) D. R. Schrider et al.   GENETICS

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

Expansion of the Gene Ontology knowledgebase and resources

(2016)   NUCLEIC ACIDS RESEARCH

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans

(2016) Arbel Harpak et al.   PLoS Genetics

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

(2015) Pier Francesco Palamara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent

(2015) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Utilizing the Jaccard index to reveal population stratification in sequencing data: a simulation study and an application to the 1000 Genomes Project

(2015) Dmitry Prokopenko et al.   BIOINFORMATICS

Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness

(2015) Matthew P. Conomos et al.   GENETIC EPIDEMIOLOGY

Inference of Super-exponential Human Population Growth via Efficient Computation of the Site Frequency Spectrum for Generalized Models

(2015) F. Gao et al.   GENETICS

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

(2015) Goo Jun et al.   GENOME RESEARCH

WGSA: an annotation pipeline for human genome sequencing studies

(2015) Xiaoming Liu et al.   JOURNAL OF MEDICAL GENETICS

Computationally Efficient Composite Likelihood Statistics for Demographic Inference

(2015) Alec J. Coffman et al.   MOLECULAR BIOLOGY AND EVOLUTION

The consequences of not accounting for background selection in demographic inference

(2015) Gregory B. Ewing et al.   MOLECULAR ECOLOGY

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

mixtools: AnRPackage for Analyzing Finite Mixture Models

(2015) Tatiana Benaglia et al.   Journal of Statistical Software

changepoint: AnRPackage for Changepoint Analysis

(2015) Rebecca Killick et al.   Journal of Statistical Software

Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance

(2014) Ananyo Choudhury et al.   BMC GENOMICS

Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450 2D6 Genotype and Codeine Therapy: 2014 Update

(2014) K R Crews et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Error-prone polymerase activity causes multinucleotide mutations in humans

(2014) Kelley Harris et al.   GENOME RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference

(2013) Brian K. Maples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Mammalian Pragmin regulates Src family kinases via the Glu-Pro-Ile-Tyr-Ala (EPIYA) motif that is exploited by bacterial effectors

(2011) F. Safari 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

Demographic History of Oceania Inferred from Genome-wide Data

(2010) Andreas Wollstein et al.   CURRENT BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Methylated H3K4, a Transcription-Associated Histone Modification, Is Involved in the DNA Damage Response Pathway

(2010) David Faucher et al.   PLoS Genetics

Polymorphism of Human Cytochrome P450 2D6 and Its Clinical Significance

(2009) Shu-Feng Zhou   CLINICAL PHARMACOKINETICS

Eukaryotic Translesion Polymerases and Their Roles and Regulation in DNA Damage Tolerance

(2009) L. S. Waters et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE

Widespread Genomic Signatures of Natural Selection in Hominid Evolution

(2009) Graham McVicker et al.   PLoS Genetics

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

(2008) Manfred Kayser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE