Building a genetic atlas of the human plasma proteome
ABSTRACT
The link between a genetic variant and its associated disease endpoint is often indirect. For this reason, genome-wide association studies (GWAS) alone have limited utility in clinical research. By identifying the abundance of particular proteins associated with GWAS variants, we can begin to fill in the gaps. Protein-genotype associations, also called pQTLs, can shed light on causal links between genetic variants and disease and highlight clinically important proteins. However, pQTL analyses have typically been restricted to small scale studies in particular cell lines, due to the technical difficulty of measuring the human proteome at scale. In this webinar, Dr. Benjamin Sun will discuss how he and his colleagues at the University of Cambridge used the SomaScan® Assay to develop a pQTL atlas of human plasma. In a study published in Nature in 2018, they quantified 3,622 plasma proteins in 3,301 healthy participants in order to identify 1,927 pQTLs. 88 of these pQTLs overlapped with disease susceptibility loci. Using Mendelian randomization analysis, Sun and colleagues further identified specific proteins that link GWAS variants to disease, highlighting potential therapeutic targets.
Benjamin Sun, PhD, MB, BChir
Royal Free Hospital, London, UK
Dr. Sun is a clinician and a scientist with a strong statistical and computational background. He got his PhD and clinical medicine degrees in a combined MB-PhD program in 2019 from the Department of Public Health and Primary Care at the University of Cambridge, where he was one of six students selected from a cohort of 300. His graduate work focused on big data research on genomic regulators of the human proteome. It was during this time that he authored the Nature publication describing the development of a “genomic atlas” of the human proteome using SomaScan Assay data. Dr. Sun was an author on 13 additional publications during his time at Cambridge. Since completing his MB-PhD, Dr. Sun has been serving as a Foundation Doctor in Trauma and Orthopaedics, Renal Medicine, and Respiratory Medicine at the Royal Free Hospital in London.
Building a genetic atlas of the human plasma proteome
A presentation by Benjamin Sun, PhD, MB, BChir
More webinars
WebinarEvaluation of precision and correlation for the latest proteomic platforms
The field of proteomics is rapidly advancing, enabling precise measurement of thousands of proteins, particularly those in higher abundance. This webcast will explore significant differences in precision within and across the latest large-scale proteomic platforms and their intercorrelations, based on blind duplicate split assays of the leading modified aptamer-based 11K and antibody proximity ligation-based 5K platforms. Each platform exhibits distinct strengths and limitations, requiring careful consideration prior to implementation in individual studies.
WebinarScaling Proteomics: Balancing Performance and Measuring Enough Proteins
As proteomics platforms have advanced, the number of proteins measured and sample throughput have dramatically increased. However, have sacrifices or trade-offs been necessary to make these gains? To find out, Stephen Williams will analyze how the performance of proteomics platforms has changed over time, comparing precision, sensitivity and specificity as throughput increases.
WebinarFrom discovery to clinical insights – the power of integrating proteomics and genomics data
The value of adding high-plex proteomics to existing genomics data and how proteogenomic approaches accelerate drug target discovery and repurposing. Watch this presentation given by Maik Pietzner, PhD, at ESHG 2024.