Tag Archive: Avni Santani

Feb 1 2019

Why Should We Automatically Reanalyze Genetics Test Results?

The findings:

The human genome contains approximately 20,000 genes, and exome analysis focuses on about 7,000 genes known in medical literature to be clinically associated with a disease. Currently, up to 70 percent of exome test reports are negative or inconclusive. But suppose at a later date a researcher discovers a gene that could be causative of the disease? 

Children’s Hospital of Philadelphia researchers led by Avni Santani, PhD, associate professor of Clinical Pathology, developed a useful tool for automated reanalysis that facilitates efficient reevaluation of nondiagnostic clinical exome sequencing (CES) samples using up-to-date literature published after the initial exome analysis was performed. They demonstrated this methodology enabled identification of novel diagnostic findings in almost 16 percent of previously nondiagnostic samples. 

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