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 2,400+ 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

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
Healthy Brain Development Balanced on Edge of a Cellular ‘Sword’
The study helps explain the molecular basis of complex brain abnormalities.
Wednesday, December 24, 2014
New Class of Synthetic Molecules Mimics Antibodies
A Yale University lab has crafted the first synthetic molecules that have both the targeting and response functions of antibodies.
Wednesday, December 24, 2014
Scientific News
Sorting Through Cellular Statistics
Aaron Dinner, professor in chemistry, and his graduate student Herman Gudjonson are trying to read the manual of life, DNA, as part of the Dinner group’s research into bioinformatics—the application of statistics to biological research.
Playing 'Tag' with Pollution lets Scientists See Who's It
Using a climate model that can tag sources of soot from different global regions and can track where it lands on the Tibetan Plateau, researchers have determined which areas around the plateau contribute the most soot — and where.
Women’s Immune System Genes Operate Differently from Men’s
A new technology reveals that immune system genes switch on and off differently in women and men, and the source of that variation is not primarily in the DNA.
Long Telomeres Associated with Increased Lung Cancer Risk
Genetic predisposition for long telomeres predicts increased lung adenocarcinoma risk.
First Artificial Ribosome Designed
Researchers at the University of Illinois at Chicago and Northwestern University have engineered a tethered ribosome that works nearly as well as the authentic cellular component, or organelle, that produces all the proteins and enzymes within the cell.
High-Resolution 3D Images Reveal the Muscle Mitochondrial Power Grid
NIH mouse study overturns scientific ideas on energy distribution in muscle.
Expanding the Brain
A team of researchers has identified more than 40 new “imprinted” genes, in which either the maternal or paternal copy of a gene is expressed while the other is silenced.
Identifying a Key Growth Factor in Cell Proliferation
Researchers discover that aspartate is a limiter of cell proliferation.
Study Uncovers Target for Preventing Huntington’s Disease
Scientists from Cardiff University believe that a treatment to prevent or delay the symptoms of Huntington’s disease could now be much closer, following a major breakthrough.
Paving the way to Better Ovarian Cancer Diagnosis
Aïcha BenTaieb will present her invention for automated identification of ovarian cancer’s many subtypes at an international conference this fall.
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
2,400+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!