This corporate satellite was presented live at ESHG 2021 on August 28th, 2021.

Next-Generation Sequencing (NGS) is rapidly improving research efforts for rare and inherited diseases. The adoption of exome sequencing helps determine the variations in the exon regions and identify causal variants of a disease with one single assay. While clinical and whole exome sequencing have greatly improved the ability to rapidly analyze many genes at the same time, clinical researchers still manage massive datasets to narrow their investigation to the pathogenetic variants of interest. In this session, experts from two clinical research laboratories will share how they successfully analyze exome data using the SOPHiA DDM TM platform and Alamut Visual Plus TM. In particular, we will present the results of two recent benchmarking studies for the routine use of clinical exome analyses, that 1) offer evidence to safely discontinue Sanger sequencing as a test to verify the SNVs/Indels detected by NGS and 2) suggest NGS as a first-tier test in the diagnosis of neurodevelopmental disorders. Moreover, we will focus on a case where variant filtering and classification were carried out to determine the postnatal pathology of a new-born to parents from a consanguineous couple.

Research Use Only (RUO), Not for Use in Diagnostic Procedures
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Dr. Ana Arteche-López
Jimenez Díaz Foundation University Hospital
Dr. Berta Almouguera
Jimenez Díaz Foundation University Hospital
Esther Sarasola Diez
Basurto University Hospital
Dr. Zeineb Achour