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Old 04-13-2015, 10:25 AM   #1
Location: Boston, MA

Join Date: Apr 2011
Posts: 42
Default [Short Course Personal Genomics: Variant Analysis & Interpretation with Public Data

Personal Genomics: Variant Analysis and Interpretation with Public Data

WHEN: Monday, June 22 | 10:00 am - 1:00 pm

WHERE: Hotel Kabuki, San Francisco, California (Part of TCGC: The Clinical Genome Conference)


KT Pickard, MBA, Founder, StartCodon
Gabe Rudy, Vice President, Product & Engineering, Golden Helix

Take a hands-on approach to learning about the power and limitations of current research, technology and public data sources to interpret the human genome of individuals outside of the clinical diagnosis context.

Learning Objectives:

How GWAS studies, price drops of NGS sequencing and the sharing of clinical classification of variants shape personal genomics.

Pros and cons of SNP arrays, whole-exome and whole-genome sequencing in the interpretation of the genetics of healthy individuals.

Public databases, websites and visualization tools for interpreting individuals' genetic variants.

Hands-on case study of analyzing my own exome and other shared individual genomes, walking through the discrete steps to annotate, filter and explore variants of interest to an individual's outlook and wellness.

How to spot false-positive variants at the aligned read level, and pull in multiple annotation sources to assess the bioinformatics evidence of a variant's pathogenicity.

Learn more at http://www.clinicalgenomeconference....aspx?id=121826
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