Upcoming Webcast – Knowing Your Downstream: Functional Predictions

Presenter: Dr. Bryce Christensen, Statistical Geneticist and Director of Services
Date: Wednesday, May 15th, 2013
Time: 12:00 pm EDT

Abstract
Next-Generation Sequencing analysis workflows typically lead to a list of candidate variants that may or may not be associated with the phenotype of interest. Any given analysis may result in tens, hundreds, or even thousands of genetic variants which must be screened and prioritized for experimental validation before a causal variant may be identified. To assist with this screening process, the field of bioinformatics has developed numerous algorithms to predict the functional consequences of genetic variants. Algorithms like SIFT and PolyPhen-2 are firmly established in the field and are cited frequently. Other tools, like MutationAssessor and FATHMM are newer and perhaps not known as well.

This presentation will review several of the functional prediction tools that are currently available to help researchers determine the functional consequences of genetic alterations. The biological principals underlying functional predictions will be discussed together with an overview of the methodology used by each of the predictive algorithms. Finally, we will discuss how these predictions can be accessed and used within the Golden Helix SNP & Variation Suite (SVS) software.

Register for this webcast »

Cheryl Rogers

About Cheryl Rogers

Cheryl Rogers joined Golden Helix in May 2010 and is the Director of Marketing at Golden Helix and as such, she is responsible for creating a comprehensive marketing, communications, and public relations strategy to position the company in the life sciences marketplace and ensure a consistently full sales funnel to meet and exceed revenue goals. Cheryl has a BA in Marketing from Montana State University - Bozeman. In her free time, she enjoys camping, biking, skiing, and cooking.

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