Basic Principles of NGS Assay Design and Validation (Avni Santani)
This talk will review the basic methodologies used in current NGS based diagnostic testing including enrichment, sequencing, analysis for germline testing. Emphasis will be placed on assay design and compliance including pre-analytic, analytical and post analytical phases and test validation.
Basic principles of informatics (Matthew Lebo)
This talk is focused on the informatics approaches used in NGS analyses and interpretation. Specific emphasis will revolve around the clinical implementation of these assays. Topics discussed will include data processing steps, variant detection, annotation, filtration, and interpretation of genomic variants. Examples of software applications and important considerations will also be presented.
Precision Medicine using NGS (Jennifer Morrissette)
This talk will review the complex interpretations of clinical cancer sequencing. Topics discussed will include the utility of fine needle aspirations for diagnostic specimens, tumor heterogeneity, the effect of amplification on variant detection, mutational tumor burden and interpretation of potentially germline variants in somatic sequencing. The connection of genomics with precision medicine will be discussed in the context of clinical pathways in oncology inclusive of genomic results.
Join us at the Singh Center
THE WORKSHOP WILL BE HELD AT THE SINGH CENTER.
JOIN US FOR A DRINKS RECEPTION AND TOUR OF THIS OUTSTANDING FACILITY AT 6 PM.
Located in Philadelphia, PA, the Singh Center for Nanotechnology is a nanotechnology and microfluidics research center that opens its doors to all of academia and industry. The Singh Center currently houses over 90+ pieces of instrumentation for the fabrication, characterization and measurement of nanomaterials and devices in a new state of the art building specifically designed for nanotechnology research.