Corporate Banner
Satellite Banner
Genotyping & Gene Expression
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
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
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 Implants Human Innate Immune Cells in Mice
Groundbreaking study has reproduced human immune function at a level not seen previously.
Tuesday, March 18, 2014
Genetic Mutation Causes Lupus in Mice
Discovery could open the way for development of therapies that target the mutation.
Tuesday, January 07, 2014
Biomarkers Indicate Increased Risk of Death After Discharge from Cardiac Surgery
Following cardiac surgery, patients with elevated levels of kidney injury biomarkers are at a significantly higher risk of dying during the next three years, a Yale study has found.
Monday, December 23, 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
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
Alzheimer’s Missing Link Found: Is a Promising Target for New Drugs
Researchers have discovered a protein that is the missing link in the complicated chain of events that lead to Alzheimer’s disease.
Monday, September 09, 2013
Lung Disease and Melanoma: a Common Molecular Mechanism?
Researchers have solved a biological mystery about the common genesis of many serious diseases such as asthma and metastatic melanoma.
Monday, September 02, 2013
Loss of Gene Expression may Trigger Cardiovascular Disease
A Yale-led team of researchers has uncovered a genetic malfunction that may lead to hardening of the arteries and other forms of cardiovascular disease.
Friday, November 30, 2012
Scientific News
NIH Supports New Studies to Find Alzheimer’s Biomarkers in Down Syndrome
Initiative will track dementia onset, progress in Down syndrome volunteers.
New Gene Map Reveals Cancer’s Achilles’ Heel
Team of researchers switches off almost 18,000 genes
Genetic Basis of Fatal Flu Side Effect Discovered
A group of people with fatal H1N1 flu died after their viral infections triggered a deadly hyperinflammatory disorder in susceptible individuals with gene mutations linked to the overactive immune response, according to a recent study.
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.
Mathematical Model Forecasts the Path of Breast Cancer
Chances of survival depend on which organs breast cancer tumors colonize first.
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.
Measuring microRNAs in Blood to Speed Cancer Detection
A simple, ultrasensitive microRNA sensor holds promise for the design of new diagnostic strategies and, potentially, for the prognosis and treatment of pancreatic and other cancers.
Personalized Drug Screening for Multiple Myeloma Patients
A personalized method for testing the effectiveness of drugs that treat multiple myeloma may predict quickly and more accurately the best treatments for individual patients with the bone marrow cancer.
Metabolic Profiles Distinguish Early Stage Ovarian Cancer with Unprecedented Accuracy
Studying blood serum compounds of different molecular weights has led scientists to a set of biomarkers that may enable development of a highly accurate screening test for early-stage ovarian cancer.
New Way to Force Stem Cells to Become Bone Cells
Potential therapies based on this discovery could help people heal bone injuries or set hardware, such as replacement knees and hips.
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
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos