Protein Quantitative Trait Loci (pQTLs)
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Nature Genetics Study Validates Seer's Proteograph Platform as Essential for Turning Genetic Signals Into Reliable Drug Targets and Biomarkers
Globenewswire· 2025-12-01 12:00
Core Insights - Seer, Inc. announced a significant genome-wide association study (GWAS) published in Nature Genetics, demonstrating the importance of mass spectrometry validation in establishing reliable drug targets and clinical biomarkers [1][10] Group 1: Study Overview - The study involved approximately 1,600 blood samples from diverse ethnic backgrounds, with a discovery cohort of 1,260 and a replication cohort of 325, utilizing Seer's Proteograph workflow [2] - A total of 5,753 proteins were detected, with 1,980 quantified in at least 80% of participants [2] Group 2: Findings and Implications - Researchers identified 364 protein quantitative trait loci (pQTLs) associated with protein abundance, with 102 replicating in the independent cohort, including 35 previously unreported signals [3] - The study highlighted that up to one-third of protein-gene associations reported by affinity-based assays do not replicate, underscoring the necessity for accuracy in proteogenomics [4][7] Group 3: Methodology and Technology - Seer's Proteograph platform employs mass spectrometry to measure proteins directly at the peptide level, mitigating confounding effects from affinity reagents [5][6] - The study compared mass spectrometry results with two major affinity-based proteomics resources, confirming that mass spectrometry is crucial for reliable proteomic analysis [6] Group 4: Future Directions - The findings strengthen confidence in drug discovery and biomarker development by ensuring that selected targets reflect genuine biological signals rather than technical noise [9] - The study positions proteomics as a population-ready science, essential for supporting drug targets and biomarkers with the rigor needed for clinical impact [11]