Corporate Banner
Satellite Banner
Scientific Community
Become a Member | Sign in
Home>News>This Article

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 2,800+ scientific posters on ePosters
  • More than 4,000+ 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 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
After a Sip of Milkshake, Genes and Brain Activity Predict Weight Gain
The new study published in The Journal Neuroscience.
Thursday, May 21, 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
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
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
Immune Cells get Cancer-Fighting Boost From Nanomaterials
Yale researchers used bundled carbon nanotubes to incubate cytotoxic T cells.
Monday, August 18, 2014
Gene that Causes Obesity-Related Metabolic Syndrome Identified
Yale-led research has identified a genetic mutation responsible for the cluster of cardiovascular risk factors that comprise the obesity-related “metabolic syndrome.”
Friday, May 16, 2014
Tsetse Fly Genome Sequenced
Research opens the door to scientific breakthroughs that could reduce or end African sleeping sickness in sub-Saharan Africa.
Friday, April 25, 2014
Deleting Single Gene Reduces Fat in Mice
By deleting a single gene, researchers at Yale University were able to dramatically reduce fat mass in mice while expanding their lifespan by 20%.
Tuesday, March 25, 2014
Genetic Mutation Causes Lupus in Mice
Discovery could open the way for development of therapies that target the mutation.
Tuesday, January 07, 2014
Yale’s Lifton Receives $3 Million Science Prize
Richard Lifton has received a $3 million Breakthrough Prize in Life Sciences, created by top Silicon Valley entrepreneurs.
Monday, December 16, 2013
Follow the Genes: Yale Team Finds Clues to Origin of Autism
A team of researchers has pinpointed which cell types and regions of the developing human brain are affected by gene mutations linked to autism.
Wednesday, November 27, 2013
Yale and Harvard Researchers Rewrite an Entire Genome
Scientists recoded the entire genome of an organism and improved a bacterium’s ability to resist viruses.
Friday, October 18, 2013
Awakening Genes that Suppress Tumors
When genes that normally suppress tumor growth are themselves suppressed, cancer cells can grow and proliferate uncontrollably.
Tuesday, October 15, 2013
New Study Changes View about the Genetics of Leukemia Risk
A gene that helps keep blood free of cancer is controlled by tiny pieces of RNA, a finding that may lead to better ways to diagnose blood cancers.
Tuesday, October 15, 2013
Scientific News
New Class of RNA Tumor Suppressors Identified
Two short, “housekeeping” RNA molecules block cancer growth by binding to an important cancer-associated protein called KRAS. More than a quarter of all human cancers are missing these RNAs.
Biologists Induce Flatworms to Grow Heads and Brains of Other Species
Findings shed light on role of a new kind of epigenetic signaling in evolution, could yield clues for understanding birth defects and regeneration.
Turning up the Tap on Microbes Leads to Better Protein Patenting
Mining millions of proteins could become faster and easier with a new technique that may also transform the enzyme-catalyst industry, according to University of California, Davis, researchers.
Mathematical Model Forecasts the Path of Breast Cancer
Chances of survival depend on which organs breast cancer tumors colonize first.
Exploring the Causes of Cancer
Queen's research to understand the regulation of a cell surface protein involved in cancer.
Ancient Viral Molecules Essential for Human Development
Genetic material from ancient viral infections is critical to human development, according to researchers at the Stanford University School of Medicine.
Tardigrade's Are DNA Master Thieves
Tardigrades, nearly microscopic animals that can survive the harshest of environments, including outer space, hold the record for the animal that has the most foreign DNA.
The Secret Behind the Power of Bacterial Sex
Migration between different communities of bacteria is the key to the type of gene transfer that can lead to the spread of traits such as antibiotic resistance, according to researchers at Oxford University.
Farming’s in Their DNA
Ancient genomes reveal natural selection in action.
GMO Food Animals Should be Judged by Product, Not Process
In a world with a burgeoning demand for meat, milk and eggs, regulatory policies around the use of biotechnologies in agriculture need to be based on the safety and attributes of those foods rather than on the methods used to produce them, says a UC Davis animal scientist.
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
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos