Corporate Banner
Satellite Banner
Genomics
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 3,300+ scientific posters on ePosters
  • More than 4,800+ 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.

Related Content

Genomics England's Plans for 100,000 Genomes Mature
Genomics England has been reporting on progress and plans for implementation of the 100,000 Genomes Project over the coming year.
Friday, February 07, 2014
Scientific News
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
Colon Cancer Blocked in Mice
Case Western Reserve University Researchers block common type of colon cancer tumour in mice, laying groundwork for human clinical trial.
Discovered Through ‘Big Data’ Analysis
Researchers at the SBP have identified over 100 new genetic regions that affect the immune response to cancer.
New Therapeutic Targets For Small Cell Lung Cancer Identified
Researchers at UTSW Medical Center have identified a protein termed ASCL1 that is essential to the development of small cell lung cancer and that, when deleted in the lungs of mice, prevents the cancer from forming.
Deciphering Inactive X Chromosomes
Untangling the Barr body of inactive X chromosomes valuable for understanding chromosome structure and gene expression.
Micro Disease-Detecting Senor Created
Researchers at McMaster University have created a microscopic disease-detecting sensor that can turn on to detect trace amounts of substances.
Liquid Biopsies Treating Ovarian Cancer
Researchers have discovered a promising monitor and treat recurrence of ovarian cancer. Detecting cancer long before tumours reappear.
Uncovering a New Principle in Chemotherapy Resistance in Breast Cancer
The NIH study has revealed an entirely unexpected process for acquiring drug resistance that bypasses the need to re-establish DNA damage repair in breast cancers that have mutant BRCA1 or BRCA2 genes.
Understanding Treatment Resistant Melanoma
Researchers have determined how advanced melanoma becomes resistant; a development toward developing treatments.
Investigating ‘Black Box’ of Human Genetics
Investigations into inactive X chromosomes have shown unusual DNA repeat elements are essential for maintaining 3D structure.
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
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!