In just 5 days, the 22nd International Molecular Medicine Tri-Conference (Tri-Con) will kick off in San Francisco. This year, Tri-Con will offer over 3,000 attendees 6 symposia, over 20 short courses, and 17 conference programs focused on drug discovery, genomics, diagnostics, and information technology surrounding, molecular medicine.
Both Dr. Andreas Scherer, CEO of Golden Helix and Gabe Rudy, our Vice President of Product & Engineering will be in attendance as well as giving a couple of talks and short course.
Dr. Scherer will present Bioinformatics of Cancer Gene Panels: Challenges to Creating Effective Testing Workflows on Wednesday, February 18th at 4:10 pm. The talk will address the transition of NGS to the clinic and the bioinformatic tools and best practices needed for providing clinically actionable results from gene panel tests.
Gabe Rudy will give the dinner course on Sunday, February 15th from 5:30-8:30 pm; Knowing Your NGS Analysis Upstream: Alignments and Variants. The course will take a hands on approach to covering the alignment and variant calling algorithms in use today and the implications of their performance on variant discovery and interpretation. In the course you can expect to learn:
- The algorithms and file formats that take short reads produced by high throughput sequences to an analyzable variant set.
- The impact of a reference genome on the quality and utility of variant calls.
- How to spot false-positive variants at the aligned read level, and how to incorporate the genomic context and public annotations to assess the bioinformatics evidence of a variants validity.
Gabe will also present Clinical Grade Annotations: Public Data Resources for Interpreting Genomic Variants at 4:30 pm on Thursday, February 18th. The talk will address the fundamental mechanics and challenges of annotating NGS data for clinical grade reporting and interpretations as well as accessing and applying the various annotation repositories in the interpretation process.
If you’re making the journey to Tri-Con this year, be sure to fit both into your schedule. And carve out some time to introduce yourself as well. Safe travels!