Whole-Exome Sequencing Reveals the Genetic Heterogeneity of Osteopetrosis in an Consanguineous Iraqi Family

Data Science Exchange (DSx)Talks Live

Whole-Exome Sequencing Reveals the Genetic Heterogeneity of Osteopetrosis in an Consanguineous Iraqi Family

“Osteopetrosis is a rare genetic disease characterised by abnormal bone density and proneness to fracture. Although a few genes have been implicated, much remains unknown. Sanger sequencing of some known implicated genes had earlier failed to convincingly identify a mutation in two Iraqi siblings suspected to be suffering from the disease. Illumina whole-exome sequencing (WES) was performed on the genomic DNAs extracted from five members (parents and three siblings) of an Iraqi-Kurdish consanguineous family. In this talk, we will discuss the analysis of the WES data using a comprehensive system biology approach and the genetic heterogeneity observed in this family as further evidence to the multigenic nature of osteopetrosis. Do join our talk to learn more.”

Live at Zoom, Wednesday 29th July 2020 at
3 - 4 pm (UTC/GMT+8, Kuala Lumpur MYT)
5 - 6 pm (UTC/GMT+10, Canberra AEST)

For more detail visit:

Registration: https://zoom.us/meeting/register/tJAqdO6qqTsrHdwqBlgwy3HpZu5RrpZ3mp9M

Free admission!