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

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

(2020) Konrad J. Karczewski et al.   NATURE

Varicose veins of lower extremities: Insights from the first large-scale genetic study

(2019) Alexandra S. Shadrina et al.   PLoS Genetics

Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people

(2019) Sarah Finer et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

(2018) Noura S. Abul-Husn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

(2018) Connor A. Emdin et al.   Nature Communications

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

(2018) Gregory McInnes et al.   BIOINFORMATICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

(2017) Adam H Buchanan et al.   GENETICS IN MEDICINE

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

(2017) Danish Saleheen et al.   NATURE

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

(2017) Frederick E. Dewey et al.   NEW ENGLAND JOURNAL OF MEDICINE

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

(2017) Hélène Choquet et al.   Nature Communications

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

(2017) Dirk Smith et al.   PLoS Genetics

Association of Body Mass Index With Cardiometabolic Disease in the UK Biobank

(2017) Donald M. Lyall et al.   JAMA Cardiology

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

(2016) John D. Eicher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

Osteocytic signalling pathways as therapeutic targets for bone fragility

(2016) Lilian I. Plotkin et al.   Nature Reviews Endocrinology

Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan

(2016) Ben Johnson et al.   PLATELETS

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

(2016) Robert A. Scott et al.   Science Translational Medicine

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank

(2016) Jessica Tyrrell et al.   BMJ-British Medical Journal

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank

(2016) Jessica Tyrrell et al.   BMJ-British Medical Journal

Age dependent regulation of bone-mass and renal function by the MEPE ASARM-motif

(2015) Lesya V. Zelenchuk et al.   BONE

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

(2015) Elisavet Fotiou et al.   Nature Communications

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

(2014) Jeffrey Staples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Piezo1 integration of vascular architecture with physiological force

(2014) Jing Li et al.   NATURE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Breast-Cancer Risk in Families with Mutations in PALB2

(2014) Antonis C. Antoniou et al.   NEW ENGLAND JOURNAL OF MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

The keratoconus corneal proteome: Loss of epithelial integrity and stromal degeneration

(2013) Raghothama Chaerkady et al.   Journal of Proteomics

Cancer Risks forMLH1andMSH2Mutation Carriers

(2012) James G. Dowty et al.   HUMAN MUTATION

Cohort Profile: The HUNT Study, Norway

(2012) S. Krokstad et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

(2012) Karol Estrada et al.   NATURE GENETICS

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

The genetics of normal platelet reactivity

(2010) T. J. Kunicki et al.   BLOOD

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia et al.   LEUKEMIA