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

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

(2021) Ryan S. Dhindsa et al.   Communications Biology

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

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

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

Spontaneous Coronary Artery Dissection

(2020) Keren J. Carss et al.   Circulation-Genomic and Precision Medicine

Massive NIH–industry project opens portals to target validation

(2019) Elie Dolgin   NATURE REVIEWS DRUG DISCOVERY

Trends in clinical success rates and therapeutic focus

(2019) Helen Dowden et al.   NATURE REVIEWS DRUG DISCOVERY

Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects

(2019) Phuong A. Nguyen et al.   Nature Communications

Genomics of disease risk in globally diverse populations

(2019) Deepti Gurdasani et al.   NATURE REVIEWS GENETICS

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

(2019) Emily A. King et al.   PLoS Genetics

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

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

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome

(2018) Gregory G. Schwartz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evolocumab and Clinical Outcomes in Patients with Cardiovascular Disease

(2017) Marc S. Sabatine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder

(2017) Hyun Ji Noh et al.   Nature Communications

Innovation in the pharmaceutical industry: New estimates of R&D costs

(2016) Joseph A. DiMasi et al.   JOURNAL OF HEALTH ECONOMICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease

(2016) Paul Nioi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity

(2016) C. A. Dendrou et al.   Science Translational Medicine

Effect of the DGAT1 inhibitor pradigastat on triglyceride and apoB48 levels in patients with familial chylomicronemia syndrome

(2015) Charles Daniel Meyers et al.   Lipids in Health and Disease

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits

(2015) Dorothée Diogo et al.   PLoS One

The International Serious Adverse Events Consortium

(2014) Arthur L. Holden et al.   NATURE REVIEWS DRUG DISCOVERY

Lessons learned from the fate of AstraZeneca's drug pipeline: a five-dimensional framework

(2014) David Cook et al.   NATURE REVIEWS DRUG DISCOVERY

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Proof of mechanism for the DGAT1 inhibitor AZD7687: results from a first-time-in-human single-dose study

(2012) H. Denison et al.   DIABETES OBESITY & METABOLISM

DGAT1 mutation is linked to a congenital diarrheal disorder

(2012) Joel T. Haas et al.   JOURNAL OF CLINICAL INVESTIGATION

A framework for human microbiome research

(2012)   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS