Medical Design and Outsourcing

  • Home
  • Medical Device Business
    • Mergers & Acquisitions
    • Financial
    • Regulatory
  • Applications
    • Cardiovascular
    • Devices
    • Imaging
    • Implantables
    • Medical Equipment
    • Orthopedic
    • Surgical
  • Technologies
    • Supplies and Components Index
    • Contract Manufacturing
    • Components
    • Electronics
    • Extrusions
    • Materials
    • Motion Control
    • Prototyping
    • Pumps
    • Tubing
  • MedTech Resources
    • Medtech Events in 2025
    • The 2024 Medtech Big 100
    • Medical Device Handbook
    • MedTech 100 Index
    • Subscribe to Print Magazine
    • DeviceTalks
    • Digital Editions
    • eBooks
    • Manufacturer Search
    • Podcasts
    • Print Subscription
    • Webinars / Digital Events
    • Whitepapers
    • Voices
    • Video
  • 2025 Leadership
    • 2024 Winners
    • 2023 Winners
    • 2022 Winners
    • 2021 Winners
  • Women in Medtech
  • Advertise
  • Subscribe

Novel Genomics Tool Enables More Accurate Identification Of Rare Mutations In Cancer Cells

March 22, 2018 By New York Genome Center

A new computational method developed by researchers at the New York Genome Center (NYGC) allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches.

The technique, reported in today’s Communications Biology from Nature Research publishing, is called Lancet and represents a major advance in the identification of tumor cell mutations, a process known as somatic variant calling.

“With its unique ability to jointly analyze the whole genome of tumor and matched normal cells, Lancet provides a useful tool for researchers to conduct more accurate genome-wide somatic variant calling,” notes first author Giuseppe Narzisi, PhD, Senior Bioinformatics Scientist, NYGC.

“Reliable detection of somatic variations is of critical importance in cancer research and increasingly in the clinical setting, where identification of somatic mutations forms the basis for personalized medicine,” said Michael Zody, PhD, Senior Director, Computational Biology, NYGC, and senior author of the study. “Lancet will be an important addition to the toolkit of both clinicians and researchers working to advance the field of cancer genomics and improve care for cancer patients.”

To identify gene mutations in cancer cells, researchers sequence the genomes of tumor cells and normal cells. Current computational methods then involve comparing both tumor and normal to a reference genome and looking for differences unique to the tumor. Lancet instead uses an approach called micro-assembly to reconstruct the complete sequences of small regions of the genome without relying on a reference. Because the approach does not rely on a reference to identify variants, it also works well in regions of the genome where comparing reads to a reference is challenging for technical reasons. By using a data structure called a colored de Bruijn graph, Lancet jointly analyzes the tumor and normal DNA, providing greater sensitivity to find rare variants unique to the tumor while also providing greater accuracy of differentiating tumor variants from those present in healthy tissue in that individual. Using Lancet to combine the sequencing data from the normal and tumor cells represents a more powerful way of identifying mutations, Dr. Narzisi said, since users are no longer dependent on analyzing sequence data from tumor and normal cells separately.

In the study, through extensive experimental comparison on synthetic and real whole-genome sequencing datasets, the researchers demonstrated that Lancet performed better and had higher accuracy and better sensitivity to detect somatic variants compared to the most widely-used somatic variant callers.

“In our study, we show that existing tools are not that precise in scoring mutations, so that some candidate variants which were highly scored by some tools ended up being false positives,” Dr. Narzisi said. “That becomes a problem when you want to prioritize which variants to validate using other technologies or you want to move forward with a clinical study. You may end up focusing on variants that do not exist.”

To facilitate its widespread use in the scientific and medical community, Lancet is freely available for non-commercial use at https://github.com/nygenome/lancet.

Related Articles Read More >

Biological Toolkit of Cells Assembled Like Legos
New Technology Keeps Eye On Babies’ Movement In The Womb
Robots Won’t Replace Teachers But Can Boost Children’s Education
Artificial Placenta Created In Laboratory
“mdo
EXPAND YOUR KNOWLEDGE AND STAY CONNECTED
Get the latest medical device business news, application and technology trends.

DeviceTalks Weekly

See More >

MDO Digital Edition

Digital Edition

Subscribe to Medical Design & Outsourcing. Bookmark, share and interact with the leading medical design engineering magazine today.

MEDTECH 100 INDEX

Medtech 100 logo
Market Summary > Current Price
The MedTech 100 is a financial index calculated using the BIG100 companies covered in Medical Design and Outsourcing.
DeviceTalks

DeviceTalks is a conversation among medical technology leaders. It's events, podcasts, webinars and one-on-one exchanges of ideas & insights.

DeviceTalks

New MedTech Resource

Medical Tubing

MassDevice

Mass Device

The Medical Device Business Journal. MassDevice is the leading medical device news business journal telling the stories of the devices that save lives.

Visit Website
MDO ad
Medical Design and Outsourcing
  • MassDevice
  • DeviceTalks
  • MedTech100 Index
  • Medical Tubing + Extrusion
  • Medical Design Sourcing
  • Drug Delivery Business News
  • Drug Discovery & Development
  • Pharmaceutical Processing World
  • R&D World
  • About Us/Contact
  • Advertise With Us
  • Subscribe to Print Magazine
  • Subscribe to our E-Newsletter
  • Listen to our Weekly Podcasts
  • Join our DeviceTalks Tuesdays Discussion

Copyright © 2025 WTWH Media, LLC. All Rights Reserved. The material on this site may not be reproduced, distributed, transmitted, cached or otherwise used, except with the prior written permission of WTWH Media LLC. Site Map | Privacy Policy | RSS

Search Medical Design & Outsourcing

  • Home
  • Medical Device Business
    • Mergers & Acquisitions
    • Financial
    • Regulatory
  • Applications
    • Cardiovascular
    • Devices
    • Imaging
    • Implantables
    • Medical Equipment
    • Orthopedic
    • Surgical
  • Technologies
    • Supplies and Components Index
    • Contract Manufacturing
    • Components
    • Electronics
    • Extrusions
    • Materials
    • Motion Control
    • Prototyping
    • Pumps
    • Tubing
  • MedTech Resources
    • Medtech Events in 2025
    • The 2024 Medtech Big 100
    • Medical Device Handbook
    • MedTech 100 Index
    • Subscribe to Print Magazine
    • DeviceTalks
    • Digital Editions
    • eBooks
    • Manufacturer Search
    • Podcasts
    • Print Subscription
    • Webinars / Digital Events
    • Whitepapers
    • Voices
    • Video
  • 2025 Leadership
    • 2024 Winners
    • 2023 Winners
    • 2022 Winners
    • 2021 Winners
  • Women in Medtech
  • Advertise
  • Subscribe