Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

(2022) Sean J. Jurgens et al.   NATURE GENETICS

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

(2022) Lorenzo Bomba et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

(2022) Kashyap A Patel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

(2022) Xianyong Yin et al.   Nature Communications

Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation

(2022) Courtney J Smith et al.   eLife

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

(2022) Abhishek Nag et al.   Science Advances

Genetics of 35 blood and urine biomarkers in the UK Biobank

(2021) Nasa Sinnott-Armstrong et al.   NATURE GENETICS

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

(2021) Nasa Sinnott-Armstrong et al.   eLife

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

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

(2021) Alison R. Barton et al.   NATURE GENETICS

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

(2021) Parsa Akbari et al.   SCIENCE

Adipose expression of CREB3L3 modulates body weight during obesity

(2021) Maximilian A. McCann et al.   Scientific Reports

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

(2021) Aimee M. Deaton et al.   Scientific Reports

A catalog of genetic loci associated with kidney function from analyses of a million individuals

(2019) Matthias Wuttke et al.   NATURE GENETICS

The Post-GWAS Era: From Association to Function

(2018) Michael D. Gallagher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population

(2018) Noha A. Yousri et al.   Nature Communications

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank

(2017) Louise AC Millard et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

(2017) Tao Long et al.   NATURE GENETICS

DrugBank 5.0: a major update to the DrugBank database for 2018

(2017) David S Wishart et al.   NUCLEIC ACIDS RESEARCH

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

(2017) James P. Davis et al.   PLoS Genetics

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

(2017) Eleanor Wheeler et al.   PLOS MEDICINE

Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations

(2017) Bram P. Prins et al.   Scientific Reports

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biochemical insights from population studies with genetics and metabolomics

(2016) Karsten Suhre et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

(2016) João Fadista et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms

(2016) Idil Yet et al.   PLoS One

An exome array study of the plasma metabolome

(2016) Eugene P. Rhee et al.   Nature Communications

Hyperlipidemia and hepatitis in liver-specific CREB3L3 knockout mice generated using a one-step CRISPR/Cas9 system

(2016) Yoshimi Nakagawa et al.   Scientific Reports

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

An atlas of genetic influences on human blood metabolites

(2014) So-Youn Shin et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Genome-wide association study identifies multiple loci influencing human serum metabolite levels

(2012) Johannes Kettunen et al.   NATURE GENETICS

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

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

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

(2011) John C Chambers et al.   NATURE GENETICS

A genome-wide association study of metabolic traits in human urine

(2011) Karsten Suhre et al.   NATURE GENETICS

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

(2011) Sheetal Gandotra et al.   NEW ENGLAND JOURNAL OF MEDICINE

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Overproduction of Very Low–Density Lipoproteins Is the Hallmark of the Dyslipidemia in the Metabolic Syndrome

(2008) Martin Adiels et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY