Uncovering the depth of the plasma proteome - linking genotype to phenotype Professor Claudia Langenberg and Professor Maik Pietzner (Queen Mary University of London), recently conducted a large-scale proteomics study in a genetically enriched cohort of 1,500 individuals, integrating data from Seer, Olink, SomaLogic, and whole-genome sequencing. By unlocking previously untapped mass spectrometry (MS) data using Seer's deep unbiased approach, they revealed novel insights into plasma proteomics and proteogenomics. Webinar Link: https://xmrrwallet.com/cmx.plnkd.in/gkemF-Hs Key Findings: • 8,000+ proteins detected, underscoring the power of deep proteome coverage for large-scale population studies • Complete peptide absence in loss-of-function homozygotes - demonstrating how MS can resolve functional consequences beyond the reach of affinity-based methods • Deep MS reveals protein-altering variants as key drivers of plasma protein variation - highlighting functional effects that are difficult to detect with affinity-based approaches • 1,200+ pQTLs identified, over 50% novel, including 140 within already studied genes - a discovery scale previously requiring up to 40x more samples • 690 genetic associations colocalized with disease-relevant cellular signals Overall, this work redefines what’s possible in population-scale proteomics - showing that deep MS can uncover biological insights previously out of reach. These findings pave the way for larger studies to fully realize its potential in precision medicine. #Proteomics #Genomics #MassSpec #pQTL #Proteogenomics #PlasmaProteome #PrecisionMedicine #Seer #PopulationHealth #Biobanking #Epidemiology #Cohorts #pGWAS #GWAS
"Deep proteome study reveals novel insights into plasma proteomics and…
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