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Scientific Publications

Nature Genetics

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Nature Genetics

A Genomics England haplotype reference panel and imputation of UK Biobank

Nature Communications

Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy

Clinical Cancer Research

Plasma Proteomic Signature Predicts Myeloid Neoplasm Risk

medRxiv

Pathway-based polygenic score analysis identifies the NRF2-KEAP1 and mRNA splicing - minor pathways as enriched in shared genetic variation between chronotype and bipolar disorder

medRxiv

A reassessment of Hardy-Weinberg equilibrium filtering in large sample Genomic studies

Research Square

Enhancing genomic data synthesis: A WGAN-GP approach for haplotype generation and evaluation using quasi Manhattan Wasserstein distance

European Urology Focus

Population Estimates of Ovarian Cancer Risk in a Cohort of Patients with Bladder Cancer

Stroke

Joint Exposure to Ambient Air Pollutants, Genetic Risk, and Ischemic Stroke: A Prospective Analysis in UK Biobank

Scientific Reports

Identification of phenomic data in the pathogenesis of cancers of the gastrointestinal (GI) tract in the UK biobank

medRxiv

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank

medRXiv

The diabetic myocardial transcriptome reveals Erbb3 as a novel biomarker of incident heart failure

Psychiatric Genetics

UK Biobank subjects carrying protein truncating variants in HERC1 are not at substantially increased risk of minor psychiatric disorders

Biomedicines

An Integrative Pancreatic Cancer Risk Prediction Model in the UK Biobank

npj Genomic Medicine

Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank

iScience

Unsupervised clustering identified clinically relevant metabolic syndrome endotypes in UK and Taiwan Biobanks

Diabetologia

Determinants of plasma levels of proglucagon and the metabolic impact of glucagon receptor signalling: a UK Biobank study

medRxiv

Fine Mapping Coronary Artery Disease Loci in UK Biobank’s Whole Genome Sequencing Data by Optimising Usage of the Cloud-Based Research Analysis Platform

Diabetologia

Determinants of plasma levels of proglucagon and the metabolic impact of glucagon receptor signalling: a UK Biobank study

iScience

Unsupervised clustering identified clinically relevant metabolic syndrome endotypes in UK and Taiwan Biobanks

Functional & Integrative Genomics

Assisting the analysis of insertions and deletions using regional allele frequencies

iScience

Proteome-wide Mendelian randomization identifies causal plasma proteins in lung cancer

Science Translational Medicine

Prospective study design and data analysis in UK Biobank

medRxiv

Colorectal cancer risk stratification using a polygenic risk score in symptomatic patients presenting to primary care—a UK Biobank retrospective cohort study

Human Molecular Genetics

Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome

mexRXiv

Whole-genome sequencing of half-a-million UK Biobank participants

Biomedicines

An Integrative Pancreatic Cancer Risk Prediction Model in the UK Biobank

Nature Genetics

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis