Corporate Banner
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 3,200+ scientific posters on ePosters
  • More than 4,700+ 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
Some Women With PCOS May Have Adrenal Disorder
Researchers at NIH have found that a subgroup of women with PCOS, a leading cause of infertility, may produce excess adrenal hormones.
Faster Detection of Pathogens in the Lungs
Thanks to new molecular-based methods, mycobacterial pathogens that cause pulmonary infections or tuberculosis can now be detected much more quickly.
Proteins in Blood of Heart Disease Patients May Predict Adverse Events
Nine-protein test shown superior to conventional assessments of risk.
£14m EU Project To Aid Meningitis Diagnosis and Cut Antibiotic Use
An international team of doctors are aiming to develop a rapid test to allow medics to quickly identify bacterial infection in children.
Bringing AFM to Medical Diagnostics
Company has announced that its NanoWizard® AFM and ForceRobot® systems are being used in the field of medical diagnostics in the Supersensitive Molecular Layer Laboratory of POSTECH in Korea.
Scientific Gains May Make Electronic Nose the Next Everyday Device
UT Dallas team breathes new life into possibilities by using CMOS integrated circuits technology.
Electronic Sensor Tells Dead Bacteria From Live
The sensor, which measures 'osmoregulation', is a potential future tool for medicine and food safety.
Diagnosing Systemic Infections Quickly, Reliably
Team develop rapid and specific diagnostic assay that could help physicians decide within an hour whether a patient has a systemic infection and should be hospitalized for aggressive intervention therapy.
A Future Tool for Medicine, Food Safety
A new type of electronic sensor that might be used to quickly detect and classify bacteria for medical diagnostics and food safety has passed a key hurdle by distinguishing between dead and living bacteria cells.
Genome Sequencing Helps Determine End of TB Outbreak
Using genome sequencing, researchers from the University of British Columbia, along with colleagues at the Imperial College in London, now have the ability to determine when a tuberculosis (TB) outbreak is over.
SELECTBIO

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
3,200+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!