Josine L. Min
A5014572068- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Genetic Mapping and Diversity in Plants and Animals
- Genetic Syndromes and Imprinting
- Genetic and phenotypic traits in livestock
- Health, Environment, Cognitive Aging
- Dermatology and Skin Diseases
- Gene expression and cancer classification
- Asthma and respiratory diseases
- Osteoarthritis Treatment and Mechanisms
- Cancer-related molecular mechanisms research
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- Birth, Development, and Health
- Cancer-related gene regulation
- Metabolomics and Mass Spectrometry Studies
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
- Molecular Biology Techniques and Applications
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Urological Disorders and Treatments
- Bone Metabolism and Diseases
- Cytokine Signaling Pathways and Interactions
- Tryptophan and brain disorders
University of Bristol
2016-2025
MRC Epidemiology Unit
2015-2025
Medical Research Council
2019-2022
Queen Mary University of London
2022
William Harvey Research Institute
2022
University of California, Los Angeles
2020
Centre for Human Genetics
2010-2017
University of Oxford
2011-2017
University of Glasgow
2017
University of Duisburg-Essen
2016
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...
The influence of genetic variation on complex diseases is potentially mediated through a range highly dynamic epigenetic processes exhibiting temporal during development and later life. Here we present catalogue the influences DNA methylation (methylation quantitative trait loci (mQTL)) at five different life stages in human blood: children birth, childhood, adolescence their mothers pregnancy middle age. We show that effects are stable across course developmental change contribution to...
While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity multiple primary tissues is not yet well understood. We explore depth role cis-regulatory three human tissues: lymphoblastoid cell lines (LCL), skin, and fat. The samples (156 LCL, 160 166 fat) were derived simultaneously from a subset well-phenotyped healthy female twins MuTHER resource. discover an abundance cis-eQTLs each tissue similar to previous estimates (858 4.7%...
Given the anthropometric differences between men and women previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip waist-to-hip-ratio (133,723 individuals) took forward 348 SNPs into follow-up (additional 137,052 total 94 studies. Seven loci displayed significant (FDR<5%), including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA,...
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated data set 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down 0.1% minor allele frequency in British population. Here we demonstrate value this resource improving imputation accuracy rare...
Epigenetic modifications such as DNA methylation play a key role in gene regulation and disease susceptibility. However, little is known about the genome-wide frequency, localization, function of variation how it regulated by genetic environmental factors. We utilized Multiple Tissue Human Expression Resource (MuTHER) generated Illumina 450K adipose methylome data from 648 twins. found that individual CpGs had low variance variability was suppressed promoters. noted highly heritable...
DNA methylation datasets are growing ever larger both in sample size and genome coverage. Novel computational solutions required to efficiently handle these data.We have developed meffil, an R package designed for efficient quality control, normalization epigenome-wide association studies of large samples Illumina Methylation BeadChip microarrays. A complete re-implementation functional minimizes memory without increasing running time. Incorporating fixed random effects within normalization,...
Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity mortality. Consequently, identification of genetic environmental contributors to the variation in these measures populations has become a major goal field. Results Leveraging SNP more than 40,000 individuals, we identify 137 genome-wide significant loci, which 113 novel, association study (GWAS) meta-analyses four epigenetic clocks surrogate markers for granulocyte...
Osteoarthritis [MIM 165720] is a common late-onset articular joint disease for which no pharmaceutical intervention available to attenuate the cartilage degeneration. To identify new osteoarthritis susceptibility locus, genome-wide linkage scan and combined association analysis were applied 179 affected siblings four trios with generalized (The GARP study). We tested, confirmation by association, 1478 subjects who required replacement 734 controls in UK population. Additional replication was...
Upper- and lower-body fat depots exhibit opposing associations with obesity-related metabolic disease. We defined the relationship between DEXA-quantified diabetes/cardiovascular risk factors in a healthy population-based cohort (n = 3,399). Gynoid mass correlated negatively insulin resistance after total adjustment, whereas opposite was seen for abdominal fat. Paired transcriptomic analysis of gluteal subcutaneous adipose tissue (GSAT) (ASAT) performed across BMI spectrum 49; 21.4–45.5...
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) deep approach to examine broader allelic architecture 12 anthropometric traits associated with height, body mass, fat distribution in up 267,616 individuals. report 106 significant signals that have not been identified, including 9 variants pointing functional...
Abstract Chronic pain is a global public health problem, but the underlying molecular mechanisms are not fully understood. Here we examine genome-wide DNA methylation, first in 50 identical twins discordant for heat sensitivity and then further unrelated individuals. Whole-blood methylation was characterized at 5.2 million loci by MeDIP sequencing assessed longitudinally to identify differentially methylated regions associated with high or low (pain DMRs). Nine meta-analysis DMRs show robust...
We have performed a metabolite quantitative trait locus (mQTL) study of the (1)H nuclear magnetic resonance spectroscopy ((1)H NMR) metabolome in humans, building on recent targeted knowledge genetic drivers metabolic regulation. Urine and plasma samples were collected from two cohorts individuals European descent, with one cohort comprised female twins donating longitudinally. Sample concentrations quantified by NMR tested for association genome-wide single-nucleotide polymorphisms (SNPs)....
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies predominantly European ancestry. Using this resource leads to accurate genotype imputation minor allele frequencies as low 0.1%, large increase in the number tested association and can help discover refine causal loci. remote server resources that allow researchers carry out phasing consistently efficiently.
The scaling of observable properties galaxy clusters with mass evolves time. Assessing the role evolution is crucial to study formation and massive halos avoid biases in calibration. We present a general method infer redshift dependence, time-evolving intrinsic scatter mass-observable relations. procedure self-calibrates dependent completeness function sample. estimates used calibrate relation considered too. apply M_Delta versus line sight velocity dispersion sigma_v, optical richness,...