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

Quality Control Guidelines Proposed for Genomics Studies

Published: Friday, April 25, 2014
Last Updated: Friday, April 25, 2014
Bookmark and Share
Guidelines for researchers studying the effects of rare genetic variants.

Sequencing an entire human genome is faster and cheaper than ever before, leading to an explosion of studies comparing the genomes of people with and without a given disease. Often clinicians and researchers studying genetic contributions to a certain disease encounter variations that appear to be responsible, only to find other people with the same mutation who don’t have the disease or who are affected to a lesser degree.

How do doctors pinpoint the genetic changes that really cause disease? An open-access policy paper published Wednesday in Nature proposes guidelines for researchers studying the effects of rare genetic variants. The recommendations focus on several key areas, such as study design, gene- and variant-level implication, databases and implications for diagnosis.

Co-author Chris Gunter, PhD, associate director of research at Marcus Autism Center and associate professor of pediatrics at Emory, is one of the organizers of the 2012 workshop of leading genomics researchers, sponsored by the National Human Genome Research Institute, that led to the paper.

“Several of us had noticed that studies were coming out with wrong conclusions about the relationship between a specific sequence and disease, and we were extremely concerned that this would translate into inappropriate clinical decisions,” she says.

Potentially, based on flawed results, physicians could order additional testing or treatments that are not truly supported by a link between a genetic variant and disease, and this paper could help prevent such inappropriate decisions, Gunter says.

The group of 27 researchers proposes two steps for claiming that a genetic variation causes disease: detailed statistical analysis followed by an assessment of evidence from all sources supporting a role for the variant in that specific disease or condition. In addition, they highlight priorities for research and infrastructure development, including added incentives for researchers to share genetic and clinical data.

One case cited in the paper relates to autism. Researchers found four independent variations in a gene called TTN when they compared genomes between individuals with and without autism. However, the TTN gene encodes a muscle protein (titin) that is the largest known; variations are simply more likely to be found within its boundaries compared to those of other genes. Without applying the proper statistical corrections, researchers may have falsely concluded that TTN was worthy of further investigation in autism studies.

The authors note that many DNA variants “may suggest a potentially convincing story about how the variant may influence the trait,” but few will actually have causal effects. Thus, using evidence-based guidelines such as the ones in the Nature paper will be crucial.

“We believe that these guidelines will be particularly useful to scientists and clinicians in other areas who want to do human genomic studies, and need a defined starting point for investigating genetic effects, “ Gunter says.

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

How White Blood Cells Limit Muscle Regeneration
Researchers have identified a protein produced by white blood cells that puts the brakes on muscle repair after injury.
Monday, August 10, 2015
First Look At Hospitalized Ebola Survivors' Immune Cells Could Guide Vaccine Design
Emory and CDC researchers have been examining immune cells obtained from four patients treated at Emory University Hospital in 2014.
Wednesday, March 11, 2015
One-minute Point-of-Care Anemia Test Shows Promise in New Study
Test produces results in about 60 seconds and requires no electrical power.
Tuesday, September 16, 2014
Intestinal Bacteria Needed for Strong Flu Vaccine Responses in Mice
Study demonstrate a dependency on gut bacteria for strong immune responses to the seasonal flu and inactivated polio vaccines.
Tuesday, September 16, 2014
Steering Stem Cells with Magnets
Magnets could be a tool for directing stem cells’ healing powers to treat conditions such as heart disease or vascular disease.
Thursday, July 18, 2013
Briefing Explores Associations between Air Pollution and Health Outcomes
Health risks associated with high levels of air pollution may vary between neighborhoods across large urban populations.
Monday, February 25, 2013
X-ray Research at Diamond Paves Way for Lassa Fever Vaccine and Drug Development
Research shows how the Lassa virus remains invisible to the human defence system and causes thousands of deaths each year.
Friday, November 19, 2010
Emory Study Yields Clue to How Stem Cells Form
Study shows some of the first direct evidence of a process required for epigenetic reprogramming between generations.
Tuesday, April 21, 2009
Researchers Discover Strategy for Predicting the Immunity of Vaccines
Emory study reveals how a highly successful vaccine triggers robust immune responses.
Monday, November 24, 2008
NIH Awards Emory $3.6 Million for Schizophrenia Gene Research
Emory University's School of Medicine has received a $3.6M grant form NIH to study a human genetic variation linked to schizophrenia.
Tuesday, May 22, 2007
Scientists Determine How Tumor Gene Controls Growth
Researchers have uncovered details about how Tsg 101 Gene causes cells to overgrow.
Monday, November 07, 2005
Scientific News
High Throughput Mass Spectrometry-Based Screening Assay Trends
Dr John Comley provides an insight into HT MS-based screening with a focus on future user requirements and preferences.
The MaxSignal Colistin ELISA Test Kit from Bioo Scientific
Kit can help prevent the antibiotic apocalypse by keeping last resort drugs out of the food supply.
"Good" Mozzie Virus Might Hold Key to Fighting Human Disease
Australian scientists have discovered a new virus carried by one of the country’s most common pest mosquitoes.
Non-Disease Proteins Kill Brain Cells
Scientists at the forefront of cutting-edge research into neurodegenerative diseases such as Alzheimer’s and Parkinson’s have shown that the mere presence of protein aggregates may be as important as their form and identity in inducing cell death in brain tissue.
Closing the Loop on an HIV Escape Mechanism
Research team finds that protein motions regulate virus infectivity.
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.
Potential Treatment for Life-Threatening Viral Infections Revealed
The findings point to new therapies for Dengue, West Nile and Ebola.
World’s First Therapeutic Venom Database
Open-source library describes nearly 43,000 effects on the human body.
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.
Fat Cells Originating from Bone Marrow Found in Humans
Cells could contribute to diabetes, heart disease.
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
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos