• Profile
Close

A novel next generation sequencing approach to improve sarcoma diagnosis

Modern Pathology Feb 17, 2020

McConnell L, Houghton O, Stewart P, et al. - Here, researchers present the design and validation of a novel sequencing tool to improve sarcoma diagnosis. They designed and optimized a NGS DNA capture panel containing probes for 87 fusion genes and 7 genes with frequent copy number changes. A cohort of 113 DNA samples obtained from soft-tissue and bone sarcoma FFPE material with clinical FISH and/or RT-PCR outcomes positive for either translocation or gene amplification was applied for validation of the NGS method. Overall, they found 97% sensitivity of the NGS panel with a specificity of 100 and 0% failure rate. Targeted NGS seems to be a reasonable and cost-effective method to increase the sarcoma subtype diagnosis with the ability to screen for a wide range of genetic aberrations in one test.
Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
  • Exclusive Write-ups & Webinars by KOLs

  • Nonloggedininfinity icon
    Daily Quiz by specialty
  • Nonloggedinlock icon
    Paid Market Research Surveys
  • Case discussions, News & Journals' summaries
Sign-up / Log In
x
M3 app logo
Choose easy access to M3 India from your mobile!


M3 instruc arrow
Add M3 India to your Home screen
Tap  Chrome menu  and select "Add to Home screen" to pin the M3 India App to your Home screen
Okay