Upcoming Webcast – Reproducing a DNA-Seq Discovery: Finding the Causal Variant of a Novel X-Linked Disorder

         October 10, 2012

Date: Wednesday, October 24th, 12:00 pm EDT | 4:00 pm UTC
Presenter: Gabe Rudy, VP of Product Development

Abstract
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!

About Delaina Hawkins

Delaina Hawkins, Director of Marketing & Operations at Golden Helix, joined the team in June of 2017. She is passionate about elevating a company to effectively grow user engagement, build brand loyalty and ultimately drive sales and revenue. When she isn't in the office, she enjoys being outdoors with friends and family.

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