SEP 09, 2015 9:00 AM PDT

WEBINAR: Clinically actionable gene fusions, CNVs and SNVs detected by NGS-based comprehensive profiling

Sponsored by: Archer DX, Archer DX
Speaker
  • Pathologist, Massachusetts General Hospital
    Biography
      Dr. Iafrate, a board-certified pathologist at Massachusetts General Hospital. He joined the hospital staff in 2005 and oversees the Center for Integrated Diagnostics (CID), which provides rapid personalized genomic testing to help inform cancer treatment decisions for patients. His lab focuses on genetic fingerprints guiding novel targeted cancer therapies. His research pioneered SNAPSHOT, a targeted genotyping assay recognizing over 100 common mutations in cancers. His lab has also been highly involved in the development of diagnostics for ALK- and ROS1-positive lung cancers indicative of crizotinib efficacy.

      Prior to working for Massachusetts General Hospital and Harvard University, Dr. Iafrate received his MD and PhD from State University of New York at Stony Brook and subsequently trained at Brigham and Women's Hospital for Anatomic and Molecular Genetic Pathology. His pivotal post-doctoral work elucidated a novel mechanism behind copy number variations (CNVs).

    Abstract
    DATE: September 9, 2015
    TIME: 9:00am PDT, 12:00PM EDT

    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

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