Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Lessons from 1000 Genomes: Small Differences Matter

Published: Thursday, November 01, 2012
Last Updated: Thursday, November 01, 2012
Bookmark and Share
A newly published compendium of the genetic alphabets of more than 1000 individuals from around the world illustrates how similar humans are – but also how crucial genetic variations can be.

The publication on Nov. 1 in the journal Nature of the 1000 Genomes Project provides the most comprehensive catalogue of human variations to date and will be indispensable to the practice of personalized medicine.

“Sequencing an individual’s DNA is useless in medicine unless there is a frame of reference to compare it to,” said Yale University’s Mark Gerstein, the Albert L. Williams Professor of Biomedical Informatics and one of more than 1,000 scientists who participated in international effort.

An individual human genome contains on an average 3 million variations. Without a reference library of variations, trying to hone in on the most informative variant is akin to looking for a needle in a haystack, he said. This compendium allows researchers to distinguish between frequently occurring, usually harmless variants, and rare potentially disease-causing genetic changes.

The work shows humans differ from one another over a whole range of genetic changes ranging from single letter substitutions, called single nucleotide polymorphism or SNPs, to large structural variations - big stretches of DNA that can be millions nucleotides in length. On average, there is a single letter change or SNP in about one out of every 800 letters of DNA in humans.  A small percentage of variants appear to be specific to populations, and may account for some of the physical differences in humans in different parts of the world.

The catalogue notes that each person carries hundreds of rare variations outside of their genes, in regions that do not code for proteins but appear to be evolutionary conserved. This knowledge makes a foundation for understanding of how personal variants predispose a people to particular diseases without affecting genes.

Gerstein’s lab is a leader in assessing which of these variants are functionally important and played a key role in the ENCODE project published in September, which surprisingly identified large regions of the human genome that play a role in regulating biological processes. With the publication of the 1000 Genomes project, scientists are now armed with a reference library of genetic variants that will allow them to discover rare variants associated with disease.


Further Information
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 2,500+ scientific posters on ePosters
  • More Than 3,700+ 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.

Related Content

Novel Technique for Kidney Research Developed
To better understand how the treatment leads to kidney damage, and possibly prevent it, a team of researchers at Yale School of Medicine developed a new 3D-imaging technique to peer deep into these vital organs.
Thursday, August 27, 2015
Shedding Light On Century-Old Biochemical Mystery
Yale scientists have used magnetic resonance measurements to show how glucose is metabolized in yeast to answer the puzzle of the “Warburg Effect.”
Thursday, August 20, 2015
Gene Testing Now Allows Precision Medicine for Thoracic Aneurysms
Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care.
Monday, July 20, 2015
Creating More Potent Vaccines
Yale researchers uncovered a new role for a type of immune cell, known as regulatory T cells, in promoting long-term immunity.
Wednesday, July 08, 2015
Yale Team finds why BRCA Gene Resists Cancer Treatment
The University researchers have discovered why a key molecular assistant is crucial to the function of the BRCA2 gene.
Tuesday, July 07, 2015
New Type of Drug Can Target All Disease-causing Proteins
Current drugs block the actions of only about a quarter of known disease-causing proteins, but Yale University researchers have developed a technology capable of not just inhibiting, but destroying every protein it targets.
Monday, June 15, 2015
After a Sip of Milkshake, Genes and Brain Activity Predict Weight Gain
The new study published in The Journal Neuroscience.
Thursday, May 21, 2015
Researchers Solve Multiple Sclerosis Puzzle
Yale study shows the role that T cells play in MS.
Monday, May 18, 2015
Gene Editing Corrects Mutation In Cystic Fibrosis
Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
Monday, April 27, 2015
New Tool To Explore Mysteries Of The Immune System
Yale scientists use CyTOF to study a range of conditions.
Monday, April 20, 2015
A Faster, Less Expensive Way To Analyze Gene Activity
Yale researchers have devised a method that could reduce the time and cost of analyzing gene activity.
Tuesday, March 03, 2015
Li Ka Shing Foundation Renews Support for Yale Stem Cell Center
New generous grant of $1.86 million from LKSF to support education and healthcare initiatives.
Saturday, February 28, 2015
Single-Cell, 42-plexed Protein Analysis Achieved with a New Microchip Technology
A novel microdevice capable of detecting 42 unique immune effector proteins has been developed.
Tuesday, February 17, 2015
Yale Team Identifies Key Process In Brain Development
miR-107 shown to play essential role in regulating normal brain development.
Friday, February 06, 2015
Cold Virus Replicates Better At Cooler Temperatures
Study shows that the immune response to rhinovirus is influenced by temperature.
Tuesday, January 06, 2015
Scientific News
The Changing Tides of the In Vitro Diagnostics Market
With the increasing focus in personalized medicine, diagnostics plays a crucial role in patient monitoring.
LaVision BioTec Reports on the Neuro Research on the Human Brain After Trauma
Company reports on the work of Dr Ali Ertürk from the Institute for Stroke and Dementia Research at LMU Munich.
NIH Study Shows No Benefit of Omega-3 Supplements for Cognitive Decline
Research was published in the Journal of the American Medical Association.
Less May Be More in Slowing Cholera Epidemics
Mathematical model shows more cases may be prevented and more lives saved when using one dose of cholera vaccine instead of recommended two doses.
Investigating the Vape
Expert independent review concludes that e-cigarettes have potential to help smokers quit.
NIH Launches Human RSV Study
Study aims to understand infection in healthy adults to aid development of RSV medicines, vaccines.
Researchers Discover Synthesis of a New Nanomaterial
Interdisciplinary team creates biocomposite for first time using physiological conditions.
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Flu Remedies Help Combat E. coli Bacteria
Physiologists from the University of Zurich have now discovered why the intestinal bacterium Escherichia coli (E. coli) multiplies heavily and has an inflammatory effect.
Marijuana Genome Unraveled
A study by Canadian researchers is providing a clearer picture of the evolutionary history and genetic organization of cannabis, a step that could have agricultural, medical and legal implications for this valuable crop.
Scroll Up
Scroll Down
Skyscraper Banner

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