Genetics

This blog post discusses a large-scale genetic study of 249 circulating metabolic traits across 619,372 individuals from the Estonian Biobank and UK Biobank. The article highlights how genome-wide association analysis, fine mapping, colocalization and cis-Mendelian randomization can reveal the biological mechanisms connecting genetic variation, metabolism and disease. Particular attention is given to low-frequency variants, branched-chain amino acid metabolism, platelet activation, pulmonary embolism and the challenges of using metabolic biomarkers for drug target interpretation.