Jonathan Marchini
A5051043751- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- Nutrition, Genetics, and Disease
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Birth, Development, and Health
- Advanced MRI Techniques and Applications
- Functional Brain Connectivity Studies
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Asthma and respiratory diseases
- Advanced Neuroimaging Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Cancer-related molecular mechanisms research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Genetic factors in colorectal cancer
- Diabetes and associated disorders
- COVID-19 Clinical Research Studies
Regeneron (United States)
2018-2025
University of Oxford
2014-2023
Division of Program Coordination Planning and Strategic Initiatives
2022
King's College London
2019-2021
University College London
2021
Centre for Human Genetics
2007-2019
National Institute for Health Research
2019
NIHR Biomedical Research Centre at The Royal Marsden and the ICR
2019
National Health Service
2019
Oxford Centre for Diabetes, Endocrinology and Metabolism
2007
Abstract The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 69 at recruitment. open resource unique in its size scope. A rich variety of health-related information available each participant, including biological measurements, lifestyle indicators, biomarkers blood urine, imaging body brain. Follow-up provided by linking health medical records. Genome-wide...
Genotype imputation methods are now being widely used in the analysis of genome-wide association studies. Most analyses to date have HapMap as a reference dataset, but new panels (such controls genotyped on multiple SNP chips and densely typed samples from 1,000 Genomes Project) will soon allow broader range SNPs be imputed with higher accuracy, thereby increasing power. We describe genotype method (IMPUTE version 2) that is designed address challenges presented by these datasets. The main...
The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by Wellcome Trust Case Control Consortium, we set out to detect replicated association signals through analysis 3757 additional 5346 integration our findings with equivalent other international consortia. We detected susceptibility loci around genes CDKAL1, CDKN2A/CDKN2B, IGF2BP2 confirmed...
Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank INTERVAL studies, testing 29.5 million genetic for 36 red cell, white platelet properties 173,480 European-ancestry participants. This effort yielded hundreds low frequency (<5%) rare (<1%) strong impact on blood cell phenotypes. Our data highlight general allelic architecture complex...
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high 80×) nearly 10,000 individuals population-based disease collections. In extensively phenotyped cohorts characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel identify alleles associated with levels triglycerides (APOB), adiponectin (ADIPOQ) low-density...
Abstract Genotype imputation is a statistical technique that often used to increase the power and resolution of genetic association studies. Imputation methods work by using haplotype patterns in reference panel predict unobserved genotypes study dataset, number approaches have been proposed for choosing subsets haplotypes will maximize accuracy given population. These selection strategies become harder apply interpret as sequencing efforts like 1000 Genomes Project produce larger more...
The genetic architecture of brain structure and function is largely unknown. To investigate this, we carried out genome-wide association studies 3,144 functional structural imaging phenotypes from UK Biobank (discovery dataset 8,428 subjects). Here show that many these are heritable. We identify 148 clusters associations between single nucleotide polymorphisms replicate at P < 0.05, when would expect 21 to by chance. Notable significant, interpretable include: iron transport storage genes,...
Abstract The UK Biobank project is a large prospective cohort study of ~500,000 individuals from across the United Kingdom, aged between 40-69 at recruitment. A rich variety phenotypic and health-related information available on each participant, making resource unprecedented in its size scope. Here we describe genome-wide genotype data (~805,000 markers) collected all quality control procedures. Genotype this scale offers novel opportunities for assessing issues, although wide range...