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 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™ platform and Alamut™ Visual Plus. 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 newborn to parents from a consanguineous couple.

Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at support@sophiagenetics.com to obtain the appropriate product information for your country of residence.