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The Genomics Landscape

1000 Genomes Project

NHGRI Director Eric Green, M.D., Ph.D.
Eric Green
By Eric D. Green, M.D., Ph.D.
Director, National Human Genome Research Institute
November 3, 2015

This month, we celebrate National Family History Day. On Thanksgiving, the U.S. Surgeon General encourages you to talk with your family about your family health history. The "My Family Health Portrait" online tool can help you organize your family health history. You can even print out the compiled information to share with family members and your doctor(s). I hope you will take a moment to talk with your family about this important topic - this month or any time of the year.

In this month's The Genomics Landscape, I highlight the 1000 Genomes Project, which came to a close last month. See various details below, along with other information items that I hope will be of interest to you.

Specifically, November's The Genomics Landscape features stories about:

All the best,


1000 Genomes Project

In October, NHGRI and its international collaborators successfully brought the 1000 Genomes Project to completion. As an important sequel to the Human Genome Project, this impressive effort initially aimed to identify and catalog 95% of the common human genomic variants (specifically, those 'DNA spelling differences' with a frequency of at least 1%). At its conclusion, the 1000 Genomes Project catalogued >99% of all common human genomic variants as well as many rare variants. The resulting resource is proving immensely valuable for studies that relate genomic variation to health and disease.

The international team of scientists working on the 1000 Genomes Project sequenced the genomes of 2,504 people from 26 populations around the world from five ancestral groups (West African, East Asian, South Asian, European, and the Americas). This reflects over 50% more sequenced genomes than originally proposed for the project- a massive overachievement! The resulting data - all of which has been made freely available - represent the world's largest catalog of genomic differences among humans.

1000 Genomes Project

Detailed analyses of the resulting >2,500 genome sequences led to the cataloguing of the different classes of genomic variants: single DNA base differences (81 million single-nucleotide polymorphisms, or SNPs), insertions and deletions (3.4 million), and larger structural polymorphisms (68 thousand). In total, the Project identified >84 million variant sites in the human genome.

To document the above accomplishments, the 1000 Genomes Project scientists published two papers in Nature: A global reference for human genetic variation and An integrated map of structural variation in 2,504 human genomes. Importantly, the 1000 Genomes Project Consortium was truly international in nature, including investigators from across the U.S., China, Germany, and the United Kingdom. 1000 Genomes Project funding from NHGRI began in Fiscal Year 2008, and has now concluded. The project was co-funded and co-led by the Wellcome Trust in the United Kingdom.

1000 Genomes Project data are proving to be highly valuable for studying both rare and common human diseases. For example, the data help investigators establish the frequency of any genomic variant that they encounter. These data are also powerful for studying the demographics and history of human populations. To aid all such studies, researchers can obtain DNA and cell lines from 1000 Genome Project participants through the NHGRI Sample Repository for Human Genetic Research at the Coriell Institute for Medical Research.

1000 Genomes - A Deep Catalog of Human Genetic Variation

The 1000 Genomes Project is a stellar example of gifted scientific minds from across the globe coming together to create a valuable resource for the biomedical research community. The two recent Nature papers nicely showcase this resource, which is now actively used worldwide to advance understanding about the role of genomic variants in health and disease.

All 1000 Genomes Project data are available at For the recent press release regarding the two Nature papers, see NHGRI's 1000 Genomes web site can be found at

More from The Genomics Landscape

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NIH Announces Common Fund 2015 High-Risk, High-Reward Research Awardees

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ASSIST Now an Option for Small Business Grant Applications

NIH & AHRQ Announce Upcoming Changes to Policies, Instructions and Forms for 2016 Grant Applications

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Novel Nucleic Acid Sequencing Technology Development (Direct to Phase II R44)

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Limited Competition: Knockout Mouse Phenotyping Project Database (UM1)

Limited Competition: Knockout Mouse Production and Phenotyping Project (UM1)

2016 NIH Director's Early Independence Awards

New Prize Competition Seeks Innovative Ideas to Advance Open Science

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Gene Therapy Staves Off Blindness from Retinitis Pigmentosa in Canine Model

Scientists Develop Genetic Blueprint of Inner Ear Cell Development

Nuclear Transport Problems Linked to ALS and FTD

Researchers Identify Potential Alternative to CRISPR-Cas Genome Editing Tools

Genomic Analysis Paves Way for Personalized Treatment of Invasive Lobular Carcinoma

The Autism Science Foundation Launches the Autism Sisters Project, to Search for Autisms' "Female Protective Effect"

A Newly-Discovered Tumor Suppressor Gene Affects Melanoma Survival

NIH Researchers Link Single Gene Variation to Obesity

Genome Advance of the Month

Women with Inherited Breast Cancer Risks Face Numerous Challenges

Upcoming Webcasts/Webinars

Common Rule Webinar Series

What You Need to Know About NIH Application Submission and Review

Notice of Intent to Publish Funding Opportunity Announcements

Functional Element Mapping Centers (UM1)

Functional Element Characterization Centers (UM1)

Computational Analysis Research Projects (U01)

ENCODE Data Coordination and Analysis Center (U24)

New Genomics Videos

Integrating Genomic Sequencing into Clinical Care: CSER and Beyond

Request for Comments

Public Comment Sought: Revised Federal Policy for the Protection of Human Subjects ('Common Rule')- Closes December 7, 2015

NCATS Seeks Input into Strategic Planning Process

Research Terms and Conditions Available for Public Comment

Input on Validation Assays for Affinity Reagents Generated by the NIH Common Fund Protein Capture Reagents Program

Request for Information (RFI): Undiagnosed Diseases Research


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Last Updated: October 6, 2015
Posted: August 4, 2008