Largest Human Genetic Variation Repository Yet

An open-access catalog of tens of thousands of human exome sequences highlights the power of a very large genomic dataset in pinpointing genes linked to rare diseases.

head shot of blond woman wearing glasses
| 4 min read

Register for free to listen to this article
Listen with Speechify
0:00
4:00
Share

FLICKR, SHAURY NASH An international team led by researchers at the Broad Institute of MIT and Harvard has compiled and analyzed the largest aggregate collection of human protein-coding sequences to date. The researchers, members of the Exome Aggregation Consortium (ExAC), have made these raw data openly accessible to the research community since 2014. In the team’s latest analysis of the exomes from around the world—presented in part at a genomics conference in 2015—the team highlighted the utility of the large dataset to identify rare disease–causing variants and genes that are particularly sensitive to mutational variation, including loss of function. The results are published today (August 17) in Nature.

“The important part of the work is the large number of [exomes],” Stephen Scherer, who studies variation in the human genome at the Hospital for Sick Children and the University of Toronto, Canada, but was not involved in the work, told The Scientist in an email. “This is good data that research and clinical communities can use in different ways.”

“This is the deepest anyone has gone for any substantial part of the [human] genome,” said Jay Shendure of the University of Washington in Seattle, who penned an accompanying perspective but was not involved in the research.

The protein-coding sequences—which comprise less than 2 percent of the entire human genome—“are the parts of the genome we understand the best and they are also the regions ...

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to more than 35 years of archives, as well as TS Digest, digital editions of The Scientist, feature stories, and much more!
Already a member? Login Here

Keywords

Meet the Author

  • head shot of blond woman wearing glasses

    Anna Azvolinsky

    Anna Azvolinsky is a freelance science writer based in New York City.
Share
3D illustration of a gold lipid nanoparticle with pink nucleic acid inside of it. Purple and teal spikes stick out from the lipid bilayer representing polyethylene glycol.
February 2025, Issue 1

A Nanoparticle Delivery System for Gene Therapy

A reimagined lipid vehicle for nucleic acids could overcome the limitations of current vectors.

View this Issue
Considerations for Cell-Based Assays in Immuno-Oncology Research

Considerations for Cell-Based Assays in Immuno-Oncology Research

Lonza
An illustration of animal and tree silhouettes.

From Water Bears to Grizzly Bears: Unusual Animal Models

Taconic Biosciences
Sex Differences in Neurological Research

Sex Differences in Neurological Research

bit.bio logo
New Frontiers in Vaccine Development

New Frontiers in Vaccine Development

Sino

Products

Tecan Logo

Tecan introduces Veya: bringing digital, scalable automation to labs worldwide

Explore a Concise Guide to Optimizing Viral Transduction

A Visual Guide to Lentiviral Gene Delivery

Takara Bio
Inventia Life Science

Inventia Life Science Launches RASTRUM™ Allegro to Revolutionize High-Throughput 3D Cell Culture for Drug Discovery and Disease Research

An illustration of differently shaped viruses.

Detecting Novel Viruses Using a Comprehensive Enrichment Panel

Twist Bio