#35 · Genomics
Metabolic measures linked to genetic and clinical evidence in large human resources
The dominant thread is integration of metabolomic phenotypes with genetic association and clinical data. MetabHub mines UK Biobank plasma NMR metabolomics for mediation pathways, disease prediction and risk stratification. MetabDB integrates 16 public metabolomics studies into a searchable resource linking metabolic measures, QTLs, GWAS traits, diseases and genetic evidence. Related work extends genetic resolution: a Qatar Biobank transcriptome QTL catalog of about 7 million associations in 1,882 participants reports 1,379 novel eGenes and population-specific causal variants, and a heritability analysis of seven traits in 198,931 diverse individuals finds that rare and non-coding variants contribute substantially. What is new is resource-scale linkage of metabolic measures to genetic and clinical evidence, alongside population-specific genetic resolution.
Published papers
A catalog of transcriptome genetic regulation in a consanguineous Middle Eastern biobank.
Catalogs ~7M transcriptome QTLs in 1,882 Qatar Biobank participants, revealing 1,379 novel eGenes and population-specific causal variants.
A haplotype reference panel constructed from 490,319 UK Biobank genomes improves genotype imputation for global populations.
Constructs a haplotype reference panel from 490,319 UK Biobank genomes, improving phasing and imputation accuracy across global populations versus TOPMed r3.
Preprints
Quantifying heritability in functional regions of the coding and non-coding genome across diverse individuals
Whole-genome heritability of seven traits in 198,931 diverse individuals; rare and non-coding variants contribute substantially.
Topic history
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