Corporate Banner
Satellite Banner
Next Gen Sequencing
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Developments in Clinical Genome and Exome Sequencing

Published: Tuesday, July 30, 2013
Last Updated: Tuesday, July 30, 2013
Bookmark and Share
Increasing numbers of US medical centres are offering clinical exome or whole genome sequencing.

Whilst both techniques have been used for some years now on a research basis for the investigation of suspected genetic diseases in patients for whom no other diagnosis was available, routine clinical sequencing of this kind is relatively new.
 
First made available in the US in 2011 for under $10,000, new providers are joining the market; those associated with academic institutions can contribute their anonymised data to public databases to support further research.
 
Deciding which sequence variants may cause disease is much more complex than the sequencing itself; checking against the corresponding sections of parental genomes can confirm that the variants are not inherited, and identifying changes within genes already known to be associated with disease can provide further clues, but answers are rarely definitive. However, as research databases expand, the evidence to inform analysis is slowly accumulating.
 
Meanwhile, researchers have devised a compromise: a kit designed to allow targeted sequencing of 5,000 ‘medically relevant’ genes. This ensures deeper coverage of these key genomic regions – including those that may not be reliably sequenced by current exome sequencing kits - reducing costs by missing out other areas less likely to be of interest; it is expected that the precise regions will vary over time as new knowledge emerges.

Initiatives of this kind will be of great interest to other countries considering how best whole genome and exome sequencing may be incorporated into routine clinical investigation of certain conditions, such as learning disability and developmental delay of unknown cause.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,100+ scientific posters on ePosters
  • More than 4,500+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.


Scientific News
Benchtop Automation Trends
Gain a better understanding of current interest in and future deployment of benchtop automated systems.
How Did The Giraffe Get Its Long Neck?
Clues about the evolution of the giraffe’s long neck have now been revealed by new genome sequencing.
Big Data Can Save Lives
The sharing of genetic information from millions of cancer patients around the world could be key to revolutionising cancer prevention and care, according to a leading cancer expert from Queen's University Belfast.
Making Genetic Data Easier to Search
Scripps team streamlines biomedical research by making genetic data easier to search.
Collaborative Study of WES Offers New Hope
Company has announced that the collaborative study of whole exome sequencing offers new hope for children with white matter disorders.
Using Portable Nanopore DNA Sequencers to Combat Wildlife Crime
University of Leicester researchers aim to develop a test using DNA to identify species at crime scenes in as little as an hour.
TGAC Installs Largest SGI UV 300 Supercomputer for Life Sciences
The Genome Analysis Centre (TGAC) partners with Global HPC hardware giant SGI to address the most complex problems in genomics analysis.
Shining A Light On Bladder Cancer
Researchers scrutinize patterns of mutations in bladder tumor genomes, gleaning insights into the roles of DNA repair and tobacco-related DNA damage.
Monovar Drills Down Into Cancer Genome
Rice, MD Anderson develop program to ID mutations in single cancer cells.
Five New Breast Cancer Genes Found
Discovery of mutations paves the way for personalised treatment of breast cancer.
Skyscraper Banner

SELECTBIO Market Reports
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,100+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,500+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!