A John Iafrate - Clinically actionable gene fusions, CNVs and SNVs detected by NGS based comprehensi

Driver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as gene fusions, copy number variations (CNVs), single-nucleotide variants (SNVs) and insertions/deletions (indels). Driver mutations vary by gene and cancer type, and the ability to accurately, rapidly and economically characterize all of the driver mutations in a single sample in a clinical setting has been untenable.
Anchored Multiplex PCR (AMP™) is a target enrichment chemistry for next-generation sequencing (NGS). AMP is used by Archer FusionPlex assays to detect known and novel gene fusions, SNVs and indels from RNA and by Archer VariantPlex assays to detect CNVs, SNVs and indels from DNA.
In this webinar, Dr. Iafrate outlines the limitations of current methods of mutation detection and shares data demonstrating the effective use of AMP chemistry for multiplex NGS-based mutation calling in the clinic.
Dr. Iafrate also describes the concomitant use of AMP-based assays using RNA and DNA from a single sample, respectively, to generate a comprehensive tumor mutation profile with minimal sample input.
Objectives:
1. Describe the limitations of detecting mutations using standard molecular pathology
2. Demonstrate accurate multiplex mutation calling using AMP chemistry
3. Introduce comprehensive tumor mutation profiling from a single sample