Register now for our lunch seminars on Wednesday, October 17 and Thursday, October 18
Visit us at the ASHG 2018 conference, held from October 16 to 20, in San Diego, California.
Location: San Diego Convention Center, Room 29AB, Upper level
Date: Wednesday, October 17, 12:30–1:45 p.m.
Lunch seminar: Working together to advance precision medicine innovation
Panel discussion & case studies
In this workshop, pharmaceutical, translational and clinical research scientists will discuss how they have collaborated with Thermo Fisher Scientific to successfully advance precision medicine within their programs. Specific topics include investigative pathology using next-generation sequencing, molecular diagnostic solutions for inherited disease and oncology, and pharmacogenomics. The session will conclude with a panel discussion focusing on how to effectively adopt and scale precision medicine within an organization and/or region, including success factors for collaboration across industries and stakeholders.
- Timothy R Holzer, PhD, Principal Research Scientist, Diagnostic & Experimental Pathology, Eli Lilly and Company
- Brian Meyer, PhD, Chairman, Department of Genetics, Research Center, King Faisal Specialist Hospital & Research Center, Saudi Arabia
- Ulrich Broeckel, MD, Founder and Chief Executive Officer, RPRD Diagnostics
- Corina Shtir, PhD, Head of Precision Medicine, Thermo Fisher Scientific - Moderator
Location: San Diego Convention Center, Room 30AB, Upper level
Date: Thursday, October 18, 12:30–1:45 p.m.
Lunch seminar: New technologies propelling human genetics & reproductive health research
Title: Overcoming the challenge of exon-level deletions and duplications in clinical exome and focused exome testing
Presenter: Gordana Raca, MD, PhD, FACMG
Director, Clinical Cytogenomics Laboratory, Center for Personalized Medicine (CPM), Children’s Hospital Los Angeles and Associate Professor of Clinical Pathology, Keck School of Medicine of USC
Abstract: Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging from a cost perspective when verifying numerous exon aberrations with orthogonal methods. Learn how your peers are overcoming these challenges along with the limitations of single deletion/duplication detection and analysis in whole-exome sequencing (WES).
Title: Advances in NGS for ultra–high sensitivity applications in human genetic research
Presenter: Mark Andersen, PhD, Sr. Director of Research & Development, Thermo Fisher Scientific
Abstract: Getting answers from limited samples has become the standard in genetic research. The next challenge is routinely getting answers where ultra-high sensitivity is required, such as detecting low frequency alleles in circulating tumor DNA, true rare genetic variants from artifacts, or trace microbes in blood. Highly sensitive NGS assays that are commercially available are fixed panels that may be limited in addressing the depth of different research needs. This talk introduces a new NGS library preparation solution that is both ultra–highly sensitive (0.1% LOD) and customizable, and demonstrates its utility in different research areas.
Title:Genotyping FMR1, SMN1, and SMN2 Using AmplideX® Technology on the SeqStudio Genetic Analyzer
Presenter: Dr. John Milligan, R&D Senior Scientist, Asuragen
Abstract: Asuragen’sAmplideX® portfolio allows laboratories to analyze some of the genome’s most challenging targets with unprecedented ease via a simple, streamlined, and single-day workflow. While validated for use across the established suite of ABI Genetic Analyzers (3130/3500/3730), the portfolio’s performance on the SeqStudio platform is still being evaluated. In this session, we will review performance data for the AmplideX PCR/CE FMR1, AmplideX PCR/CE SMN1, and AmplideX PCR/CE SMN1/2 Kits, which detect markers associated with reproductive health, on this new platform.