Bench to bedside: successful application of WES in the molecular diagnosis of genetic diseases
14 January 2021

JANUARY 22 2021 | 5pm CET | 12pm EST | 9am PST

The Institute for Maternal and Child Health IRCCS “Burlo Garofolo” has adopted the full enGenome’s bioinformatics stack (enGenome Germline PipelineTM and eVaiTM) for the analysis of Whole Exome Sequencing (WES) data. 

Whole Exome Sequencing (WES) is a powerful technology with remarkable impacts on the diagnosis of hereditary disorders. However, in order to unlock its full potential and use it in routine clinical practice, an accurate, fast and reproducible bioinformatics analysis is needed.

In this webinar, our guest speakers Dr. Girotto, Dr. Morgan and Dr. Lenarduzzi will explain how WES, combined with the enGenome’s software solution, is able to jointly detect and interpret SNV, INDEL and CNV, thus allowing to rapidly and successfully support the diagnosis of:

  • A child with a congenital sensorineural hearing loss of moderate degree

  • An adult patient affected by arrhythmogenic right ventricular cardiomyopathy 

  • A newborn affected by congenital dilated cardiomyopathy and altered fatty acids metabolism

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About IRCCS Burlo Garofolo

The IRCCS Burlo Garofolo is a Scientific Institute for Research, Hospitalization and Healthcare focused on the entire spectrum of paediatrics specialties and recognized as a national referral center for autoimmune-immune-mediated disorders and rare diseases, prenatal diagnosis and registries of inherited diseases.

The laboratory of Medical Genetics provides a comprehensive genetics service, offering diagnostic tests to identify complex genetic variations associated with Mendelian disorders and professional genetic counseling through highly specialized clinical geneticists.

Watch On-Demand!