Proteomics for Precision Healthcare
Tala Khosroheidari, David van Heel, Julia Carrasco-Zanini-Sanchez
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Chapters
Introduction
Opening Remarks and Intorductions: Tala Khosroheidari
Comprehensive Proteomics/Genomics Analysis through Expanded Offerings
Why Proteomics?
What is an ideal Proteomics Solution?
Main Features of SomaScan Proteomics
SomaLogic® Offerings – From Discovery to Clinical Insights
Join Active Consortiums to Access Publicly Available Data
Thank you!
ease Welcome our next speakers …
Speaker: David van Heel
Proteomics for Precision Healthcare
Genes Health AD
Summary
Why British-Bangladeshi and British-Pakistani volunteers in Genes & Health?
Eurocentric bias in genomics: exomes
Who, Where, What and Why?
The power of NHS health data
Scientific successes
44k exomes*, complete knockouts
Finding knockouts requires autozygous populations
Complete knockouts
Current blood -omic “Pilot” data
Speaker: Julia Carrasco-Zanini-Sanchez
Advances in the techniques to measure the proteome
Leveraging proteomics to bridge the gap from the genome to the phenome
Creating a proteogenomic map including 1859 protein-disease connections
Cross-disease convergence at EFEMP1
Multi-omics strategy in G&H
Proteome compartment coverage by platform
Sample handling affects proteomic measurement
Reproducibility of the SomaScan 11k assay
A proteome-genome-wide association study in South Asians
Comparison of pQTL discovery yield between SomaLogic and Olink
Assessing the impact of rare pLOF and deleterious missense variants on the “cis-target’ protein
Homozygous pLoF variants result in extreme under-expression of cis proteins
Homozygous missense variants result in extreme under- and over-expression of cis proteins
Our ability to detect the effect of LoF and deleterious missense variants is better in high abundant proteins
Our ability to detect the effect of LoF and deleterious missense variants is better for proteins predicted to be secreted
Plasma proteomics as indicators of health
Proteomics for screening otherwise hard to detect conditions
Other biological influences outweigh genetic influences on variation in plasma for more than half of proteins
Summary
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