Corporate Banner
Satellite Banner
Informatics
Scientific Community
 
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 3,800+ 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.


Scientific News
Searching Big Data Faster
Theoretical analysis could expand applications of accelerated searching in biology, other fields.
Imaging Software Could Speed Breast Cancer Diagnosis
Technology could improve access to diagnostic services in developing countries.
Data Mining DNA For Polycystic Ovary Syndrome Genes
A new Northwestern Medicine genome-wide association study of PCOS – the first of its kind to focus on women of European ancestry – has provided important new insights into the underlying biology of the disorder.
Firefly Protein Enables Visualization of Roots in Soil
A new imaging tool from a team led by Carnegie’s José Dinneny allows researchers to study the dynamic growth of root systems in soil, and to uncover the molecular signaling pathways that control such growth.
UEA Research Could Help Build Computers From DNA
New research from the University of East Anglia could one day help build computers from DNA.
Viral Comparisons
ORNL team applies genomics expertise to analyze, map virus sequence database.
Preserving Fleeting Digital Information with DNA
A team has demonstrated that DNA they encapsulated can preserve information for at least 2,000 years, and they’re now working on a filing system to make it easier to navigate.
TGAC Leads Development to Diminish Threat to Vietnam’s Most Important Crop
Advanced bioinformatics capabilities for next-generation rice genomics in Vietnam to aid precision breeding.
Mass Extinctions Can Accelerate Evolution
A computer science team at The University of Texas at Austin has found that robots evolve more quickly and efficiently after a virtual mass extinction modeled after real-life disasters such as the one that killed off the dinosaurs.
Furthering Data Analysis of Next-gen Sequencing to Facilitate Research
Researchers at Cincinnati Children's Hospital Medical Center have developed a user-friendly, integrated platform for analyzing the transcriptomic and epigenomic "big data.
Scroll Up
Scroll Down
SELECTBIO

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
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!