Opportunities and challenges for the use of common controls in sequencing studies

Rare coding variants in ten genes confer substantial risk for schizophrenia

(2022) Tarjinder Singh et al.   NATURE

The genomics workforce must become more diverse: a strategic imperative

(2021) Vence L. Bonham et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

(2021) Rebecca A. Rojas et al.   GENETICS IN MEDICINE

Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease

(2021) Gunadi et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

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

(2021) Daniel Taliun et al.   NATURE

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

(2021) Chun-Yu Wei et al.   npj Genomic Medicine

Author Correction: High-depth African genomes inform human migration and health

(2021) Ananyo Choudhury et al.   NATURE

The Dockstore: enhancing a community platform for sharing reproducible and accessible computational protocols

(2021) Denis Yuen et al.   NUCLEIC ACIDS RESEARCH

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

(2021) Jean-Noël Hubert et al.   Cancers

Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms

(2021) Adrián Mosquera Orgueira et al.   Cancers

Summix: A method for detecting and adjusting for population structure in genetic summary data

(2021) Ian S. Arriaga-MacKenzie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients

(2021) Ming Tan et al.   CLINICAL GENETICS

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

(2021) Parsa Akbari et al.   SCIENCE

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

(2021) Janel O. Johnson et al.   JAMA Neurology

Bayesian model comparison for rare-variant association studies

(2021) Guhan Ram Venkataraman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases

(2021) Lin Jiang et al.   NUCLEIC ACIDS RESEARCH

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

(2021) Ricky Lali et al.   Nature Communications

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

(2020) Francesco Mazzarotto et al.   CIRCULATION

Germline cancer predisposition variants and pediatric glioma: a population-based study in California

(2020) Ivo S Muskens et al.   NEURO-ONCOLOGY

Evaluating the promise of inclusion of African ancestry populations in genomics

(2020) Amy R. Bentley et al.   npj Genomic Medicine

Candidate genes for hereditary colorectal cancer: mutational screening and systematic review

(2020) Sami Belhadj et al.   HUMAN MUTATION

Evaluating drug targets through human loss-of-function genetic variation

(2020) Eric Vallabh Minikel et al.   NATURE

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

(2020) Konrad J. Karczewski et al.   NATURE

Mapping and characterization of structural variation in 17,795 human genomes

(2020) Haley J. Abel et al.   NATURE

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

(2020) Anders Bergström et al.   SCIENCE

Synthetic and External Controls in Clinical Trials – A Primer for Researchers

(2020) Kristian Thorlund et al.   Clinical Epidemiology

Rare Loss-of-function Mutations of PTGIR are enriched in Fibromuscular Dysplasia

(2020) Adrien Georges et al.   CARDIOVASCULAR RESEARCH

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

(2020) Gaëlle Marenne et al.   Cell Metabolism

Genetics of renovascular hypertension in children

(2020) Daan H.H.M. Viering et al.   JOURNAL OF HYPERTENSION

Mutation Analysis of DNAJC Family for Early‐Onset Parkinson's Disease in a Chinese Cohort

(2020) ChunYu Li et al.   MOVEMENT DISORDERS

Responsible, practical genomic data sharing that accelerates research

(2020) James Brian Byrd et al.   NATURE REVIEWS GENETICS

The Human Genome Project changed everything

(2020) Richard A. Gibbs   NATURE REVIEWS GENETICS

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

(2020) Dora Steel et al.   ANNALS OF NEUROLOGY

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

(2020) Mariona Terradas et al.   GUT

Don’t ignore genetic data from minority populations

(2020) Chief Ben-Eghan 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

The road ahead in genetics and genomics

(2020) Amy L. McGuire et al.   NATURE REVIEWS GENETICS

Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort

(2020) ChunYu Li et al.   NEUROBIOLOGY OF AGING

CSVS, a crowdsourcing database of the Spanish population genetic variability

(2020) María Peña-Chilet et al.   NUCLEIC ACIDS RESEARCH

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

(2020) Luke Hebert et al.   PLoS One

Host genetics and infectious disease: new tools, insights and translational opportunities

(2020) Andrew J. Kwok et al.   NATURE REVIEWS GENETICS

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic architecture of human thinness compared to severe obesity

(2019) Fernando Riveros-McKay et al.   PLoS Genetics

Data model harmonization for the All Of Us Research Program: Transforming i2b2 data into the OMOP common data model

(2019) Jeffrey G. Klann et al.   PLoS One

Variant PADI3 in Central Centrifugal Cicatricial Alopecia

(2019) Liron Malki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Federated discovery and sharing of genomic data using Beacons

(2019) Marc Fiume et al.   NATURE BIOTECHNOLOGY

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

(2019) Jason Flannick et al.   NATURE

A Cautionary Note on the Effects of Population Stratification Under an Extreme Phenotype Sampling Design

(2019) Michela Panarella et al.   Frontiers in Genetics

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Genomics of disease risk in globally diverse populations

(2019) Deepti Gurdasani et al.   NATURE REVIEWS GENETICS

Overvaluing individual consent ignores risks to tribal participants

(2019) Krystal S. Tsosie et al.   NATURE REVIEWS GENETICS

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

(2019) Mamunur Rashid et al.   Nature Communications

Indicators of mental disorders in UK Biobank—A comparison of approaches

(2019) Katrina A.S. Davis et al.   INTERNATIONAL JOURNAL OF METHODS IN PSYCHIATRIC RESEARCH

Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease

(2019) Alvaro Gallego-Martinez et al.   JOURNAL OF MEDICAL GENETICS

The “All of Us” Research Program

(2019)   NEW ENGLAND JOURNAL OF MEDICINE

Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network

(2019) Ning Shang et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Gli3 regulates vomeronasal neurogenesis, olfactory ensheathing cell formation and GnRH-1 neuronal migration

(2019) Ed Zandro M. Taroc et al.   JOURNAL OF NEUROSCIENCE

Rare-variant collapsing analyses for complex traits: guidelines and applications

(2019) Gundula Povysil et al.   NATURE REVIEWS GENETICS

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

(2019) Andrea Messina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The GenomeAsia 100K Project enables genetic discoveries across Asia

(2019)   NATURE

Cloud computing for genomic data analysis and collaboration

(2018) Ben Langmead et al.   NATURE REVIEWS 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

The Genetic Landscape of Diamond-Blackfan Anemia

(2018) Jacob C. Ulirsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

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

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

(2018) Audrey E. Hendricks et al.   PLoS Genetics

Improving power for rare-variant tests by integrating external controls

(2017) Seunggeun Lee et al.   GENETIC EPIDEMIOLOGY

Associations between body mass index-related genetic variants and adult body composition: The Fenland cohort study

(2017) E A D Clifton et al.   INTERNATIONAL JOURNAL OF OBESITY

Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors

(2017) Emanuele Di Angelantonio et al.   LANCET

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

(2017) Wei-Qi Wei et al.   PLoS One

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

(2016) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN 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

Broad Consent for Genomic Research and Biobanking: Perspectives from Low- and Middle-Income Countries

(2016) Paulina Tindana et al.   Annual Review of Genomics and Human Genetics

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Democratic databases: science on GitHub

(2016) Jeffrey Perkel   NATURE

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

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls

(2016) Yi-Juan Hu et al.   PLoS Genetics

The FAIR Guiding Principles for scientific data management and stewardship

(2016) Mark D. Wilkinson et al.   Scientific Data

The Prevalence of Vitiligo: A Meta-Analysis

(2016) Yuhui Zhang et al.   PLoS One

Improved Ancestry Estimation for both Genotyping and Sequencing Data using Projection Procrustes Analysis and Genotype Imputation

(2015) Chaolong Wang et al.   AMERICAN JOURNAL OF HUMAN 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

The European Genome-phenome Archive of human data consented for biomedical research

(2015) Ilkka Lappalainen et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

ClinGen — The Clinical Genome Resource

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

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

(2015) Christopher C Chang et al.   GigaScience

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

(2014) Liis Leitsalu et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

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

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

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

(2013) K. M. Newton et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

(2013) Timothy D. O’Connor et al.   PLoS One

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Enhancements to the ADMIXTURE algorithm for individual ancestry estimation

(2011) David H Alexander et al.   BMC BIOINFORMATICS

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Editorial Expression of Concern

(2010) B. Alberts   SCIENCE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Exome sequencing makes medical genomics a reality

(2009) Leslie G Biesecker   NATURE GENETICS

Principal component analysis of genetic data

(2008) David Reich et al.   NATURE GENETICS