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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 in validating protein changes and establishing reliable drug targets and clinical biomarkers [1][10] Group 1: Study Overview - The GWAS involved approximately 1,600 blood samples from diverse ethnic backgrounds, with a discovery cohort of 1,260 and a replication cohort of 325, leading to the detection of 5,753 proteins and quantification of 1,980 proteins in at least 80% of participants [2] - Researchers identified 364 protein quantitative trait loci (pQTLs) associated with protein abundance, with 102 of these replicated in the independent cohort, including 35 previously unreported signals [3] Group 2: Methodology and Findings - Traditional affinity-based proteomics can produce erroneous signals due to epitope effects, where genetic variants alter binding sites, leading to false associations between protein expression and genetic variants [4] - The Proteograph's mass spectrometry approach allows for direct measurement of proteins at the peptide level, effectively mitigating confounding effects and confirming true biological changes [5][6] Group 3: Implications for Research and Development - The study emphasizes that mass spectrometry validation is crucial for ensuring the reliability of protein measurements, which can enhance drug discovery and biomarker development by reducing technical noise and increasing the likelihood of clinical success [9][10] - The findings suggest that datasets relying solely on affinity reagents may contain a significant number of false associations, underscoring the need for mass spectrometry validation in genetic association studies [6][7] Group 4: Future Directions - As proteomics integrates with genomics and clinical data, the accuracy of these datasets will be vital for supporting drug targets and translational medicine, positioning Seer to lead in population-scale proteomics [11]