TCGC: Clinical Genome ConferenceTCGC: Clinical Genome ConferenceTCGC: Clinical Genome Conference

Pre-Conference Short Course*

Monday, June 22

9:00 am Short Course Registration

Personal Genomics: Variant Analysis
and Interpretation with Public Data

10:00 am-1:00 pm


In this short course, we 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. By interactively analyzing my own exome and the genomes of other public genomes, the short course orients participants with programmatic analysis and interpretation techniques applicable to many contexts.

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.


Detailed Agenda:

10:00 am Personal Genomics with Public Data

Gabe Rudy, Vice President, Product & Engineering, Golden Helix

  • Technology overview for acquiring genotypes and variants
  • Public data sources, web resources
  • Importance of "data curation" and types of annotations
  • Annotation and visualization tools

11:00 Coffee Break

11:30 Our -Omics Odyssey

KT Pickard, MBA, Founder, StartCodon

  • Lessons learned in personal genome interpretation
  • Sharing of genomic data
  • Sequencing my family

12:15 pm Case Study: My Own Exome

Gabe Rudy, Vice President, Product & Engineering, Golden Helix

  • N of 1 analysis and interpretation (live analysis)
  • Classifications that change over time
  • How to spot false-positive variants

12:45 Interactive Q&A with Instructors and Participants

1:00 Close of Short Course


KT Pickard, MBA, Founder, StartCodon 

KTPickardK. Thomas Pickard (KT) is a marketing executive at Perceptive Software, a healthcare content management company. Previously he held roles at Emageon, eMed Technologies and Thinking Machines. In 2013, he founded StartCodon, a nonprofit promoting neurodiversity in biotechnology and life sciences. His work in personal genomics also includes research in consumer-directed health information sharing. KT has an MBA degree from St. Mary’s College of California.

Gabe Rudy, Vice President, Product & Engineering, Golden Helix 

GabeRudyGabe is a 13-year veteran at Golden Helix and spends his days collaborating with a diverse set of scientists and building solutions to enable their research. An alumnus of Montana State, he earned his Master’s in Computer Science from the University of Utah before setting his sights on the fast-changing field of genomics and bioinformatics. Gabe has been involved in developing various algorithms from copy number segmentation to runs of homozygosity and rare variant association testing. Gabe blogs about the genomics field from the perspective of someone building solutions and curating genomic annotations and public databases. His series, "A Hitchhiker’s Guide to Next Generation Sequencing", has become quite popular as a starter guide for those entering the field.

* Separate Registration Required