Date: Wednesday, October 24th, 12:00 pm EDT | 4:00 pm UTC
Presenter: Gabe Rudy, VP of Product Development
Next-generation sequencing of DNA has shown to be a successful tool to discover causal variants of rare, highly penetrant mendelian diseases.
In this webinar, we will analyze clinical samples to demonstrate the bioinformatic workflows and visualization techniques used to reproduce the published findings of “Ogden Syndrome” – a novel X-linked fatal genetic disorder discovered by Dr. Gholson Lyon of University of Utah (now Cold Spring Harbor Laboratories).
The analysis will be based on X chromosome exon capture and sequencing of the affected child, carrier mother and grandmother, and unaffected brother and maternal uncle. Using SNP & Variation Suite, we will incorporate known variant catalogs, variant classification, functional prediction, and family-based filtering to find putative causal variants.
Using GenomeBrowse to investigate and confirm the analysis results, we will reproduce the single putative variant finding that was confirmed and published as the causal variant of this disorder.
We hope you can join us!