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Genome-Phenome Analysis

(Recorded on June 25, 2014) | Access Today 

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Learn how your lab can do a genome-phenome analysis to analyze a panel, whole exome or genome using automated comparison to a curated database of known phenotypes.  The full power of clinical diagnostic decision support software is integrated with genome analysis to rapidly identify the causative genes and variants for all known Mendelian disorders.   The results of NIH-funded studies of this approach will be shared.  The Genome-Phenome Analyzer and its curated knowledge enable all its users to do the correlation in <5-seconds, accurately and cost effectively.

Learning Objectives: 

  • Where Genome-Phenome analysis fits into the diagnostic workflow
  • How Genome-Phenome Analysis works
  • Results of studies of effectiveness of the diagnostic software and Genome-Phenome Analysis
  • How to arrange for a pilot




Michael M. Segal MD PhD
Founder and Chief Scientist



Lynn Feldman


(Recorded on June 25, 2014) | Access Today 

For reprints and/or copyright permission, please contact Terry Manning, 781.972.1349.