Satellite Banner
Molecular & Clinical Diagnostics
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 4,000+ scientific posters on ePosters
  • More than 5,300+ 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
Cancer Genetics: Key to Diagnosis, Therapy
When applied judiciously, cancer genetics directs caregivers to the right drug at the right time, while sparing patients of unnecessary or harmful treatments.
Accelerating the Detection of Foodborne Bacterial Outbreaks
The speed of diagnosis of foodborne bacterial outbreaks could be improved by a new technique developed by researchers at the Georgia Institute of Technology.
Cancer Gene Predicts Treatment Response in Leukaemia
Study indicates the patients suffering from a lethal for of acute myeloid leukemia may live longer when receiving milder chemotherapy drugs.
New Diagnostic Tool for Familial Mediterranean Fever
A new tool developed by researchers at VIB and Ghent University could improve the process of diagnosing Familial Mediterranean Fever.
'Lab on the Skin' for Sweat Analysis
Northwestern University researchers develop a low-cost wearable electronic device that collects and analyzes sweat for health monitoring.
Molecular Signature for Aggressive Brain Tumor Uncovered
Researchers have identified genetic mutations in a highly agressive brain cancer that distinguishes the agressive, from the benign forms of the cancer.
Malaria Parasite Evades Rapid Test Detection in Children
A study at the University of North Carolina found that gene deletion poses a threat to Malaria eradication efforts.
Novel Urine Test to Predict High-Risk Cervical Cancer
Preliminary studies affirm accuracy and potential cost savings to screen for virus-caused malignancy.
GFC Diagnostics Wins Longitude Prize Discovery Award
The global award was won for the development of a cheap, quick and simple MRSA Test.
Understanding Circulating Tumour Cells
Research team develops new tool to track traveling cancer cells in the bloodstream.
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
4,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,300+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!