Human Whole Genome Sequencing –Searching for the De Novo Variants in Rare Disease
Presented By: Ammar Husami, Senior Bioinformatics Analyst, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
VarSeq is a powerful tool that makes it easy for biologist, geneticist, researchers, bioinformaticist
to filter and narrow down from thousands of variants to few based on filtering cascade and
information tracks. I will present my experience of VarSeq in the context of exploring de novo
pathologic variations in human genomes associated with congenital anomalies.
The discovery of de novo variant doesn’t mean pathologic. It requires experimental evidence determine the molecular function and mechanism of the mutation in the context of the disease.
Watch below as Ammar discusses how to find the needle in the haystack.
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Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here.