中科院计算生物学重点实验室学术报告:Metabolomics in Precision Medicine:From big data to individual genetic risk assessment and disease management

作者: 2018-04-19 08:53 来源:
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Speaker: Lining Guo, Ph.D.
           Vice President of Project Management, Metabolon

 

Host: Prof. Zefeng Wang

        CAS Key Lab of Computational Biology, CAS-MPG Partner Institute for Computational Biology,

       Shanghai Institute of Nutrition and Health, CAS

 

Title: Metabolomics in Precision Medicine:

        From big data to individual genetic risk assessment and disease management

 

Time: Apr. 23, 11:00 am(Monday),2018

 

Venue: Room 315, Physiology Building,320 Yueyang Road, Shanghai

 

Abstract:

      The human metabolome represents a high resolution intermediate phenotype that bridges the impact of genetics, non-genetic factors, and health/disease end points. Genetic factors modifying the blood metabolome have been investigated through GWAS of common, low frequency, and rare genetic variants. Population analysis has further provided insights on the natural variation and regulation of human plasma metabolome. Based on the knowledge we have learnt from large cohort studies, we combined metabolomics and whole genome/exome sequencing in individual clinical cases and provided novel insights to:
1). Clarifying sequence variants of unknown significance (VUS).
2). Identifying metabolic defects in undiagnosed disease cases leading to clinical intervention, and
3). Identifying drug toxicity and responsiveness. Metabolomics in Precision Medicine: From big data to individual genetic risk assessment and disease management.

 

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