IMS Seminar Rooms 1 & 2

Dr John Ryals www.metabolon.com

“Getting more from Next-Gen Sequencing: Metabolomics as a First-Line Phenotyping Tool”

Metabolomics is defined as “the non-biased quantification and identification of all metabolites present in a biological system” but in practice the term metabolomics is used in a rather broad sense and covers many different analytical methodologies. To address the challenges associated with metabolomics, a comprehensive, integrated analytical and data handling platform was developed that provides a chemo-centric global metabolomics analyses of biological systems. The analytical platform incorporates four UHPLC/MS/MS2 accurate mass methods operated under CLIA guideline, allows the robust, high-throughput collection and analysis of analytical data and accurately identifies a large number and broad spectrum of biochemical, thereby facilitating biochemical interpretation of metabolomic experiments. We will discuss the use of our metabolomics approach to identify gene function, quickly identify cases of inborn errors of metabolism, verify importance of genetic variants of unknown function, and screen for health or disease status in patients.

Host: Stephen O’Rahilly

All welcome