Exome sequencing is becoming more and more routine in research diagnostic applications. This webinar will take you through the story of a personal exome, from the symptoms of the patient to the identification of the underlying genetic variants. We will share insights and successful strategies to deal with the thousands of variants in a single exome, including the powerful use of known pathogenic variants from HGMD® in Genome Trax™. All the annotation data is available for your own research.
Panelist
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Frank Schacherer,
- CTO
- BIOBASE