Uncover novel insertions

Unlike deletions, insertions are rarely picked up from NGS data. In a genetic male subject with gonadal dysgenesis, OGM identified a 6 kbp insertion in the WDR11 gene, associated with abnormal testes development and cryptorchidism.

Barseghyan H. Bionano mapping for evaluation of structural variants in genetic diseases. ASHG Bionano Symposium. 2019. https://bionanogenomics.com/videos/bionano-ashg-symposium-at-ashg-2019-hayk-barseghyan/