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,
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.
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.
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 1000genomes.org. For the recent press release regarding the two Nature papers, see genome.gov/27562711. NHGRI's 1000 Genomes web site can be found at genome.gov/27528684.
TCGA Awarded 2015 Service to America Medals People's Choice Award
The Cancer Genome Atlas (TCGA) Project Team, led by Dr. Carolyn Hutter from NHGRI and Dr. Jean Claude Zenklusen from the National Cancer Institute, has been awarded the 2015 Samuel J. Heyman Service to America Medals People's Choice Award. These prestigious awards, nicknamed "the SAMMIES," are presented annually by the nonprofit, nonpartisan Partnership for Public Service to celebrate excellence in federal civil service. The TCGA team analyzed thousands of genome sequences from more than thirty types of cancer, advancing research into the diagnosis, treatment, and prevention of these deadly diseases. For further details, see servicetoamericamedals.org/honorees/view_profile.php?profile=423.
Spotlight on the Precision Medicine Initiative (PMI) nih.gov/precisionmedicine
NIH Operates Under a Continuing Resolution
Dr. Collins Testifies Before the Senate on Investing in a Healthier Future
International Diabetes Research Knowledge Portal Opens to Public, Scientists
Knowledge for the World: Genetics Database Celebrates Golden Anniversary
Analysis of Public Comments on NIH-Wide Strategic Plan Request for Information
Genome: Unlocking Life's Code October Newsletter
NIH Announces Common Fund 2015 High-Risk, High-Reward Research Awardees
ASSIST Now an Option for Small Business Grant Applications
NIH & AHRQ Announce Upcoming Changes to Policies, Instructions and Forms for 2016 Grant ApplicationsImplementing Rigor and Transparency in NIH & AHRQ Research Grant Applications and Career Development Award Applications
Novel Nucleic Acid Sequencing Technology Development (Direct to Phase II R44)
Novel Genomic Technology Development (R01, R21, R43/R44 and Direct to Phase II SBIR R44)
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
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
Women with Inherited Breast Cancer Risks Face Numerous Challenges
Common Rule Webinar Series
What You Need to Know About NIH Application Submission and Review
Functional Element Mapping Centers (UM1)
Functional Element Characterization Centers (UM1)
Computational Analysis Research Projects (U01)
ENCODE Data Coordination and Analysis Center (U24)
Integrating Genomic Sequencing into Clinical Care: CSER and Beyond
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
Past editions of The Genomics Landscape can be accessed at Director's Page Archive
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Last Updated: October 6, 2015
Posted: August 4, 2008