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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… These include broadly applicable areas, such as genomic technology development; using genomic information in patient care; and the ethical, legal, and … process. Recognizing the increasing role of genomic information in everyday life - from non-invasive prenatal …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… I have long been a champion of women in STEM (science, technology, engineering, and mathematics). Dr. Doudna, you … of CRISPR has brought the promises of using gene editing technology to cure debilitating and life-threatening diseases … I sponsored a bill that became law, called the Genetic Information Nondiscrimination Act or more commonly known as …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… allows users to visualize the ENCODE 3 data and acquire information about the catalogued candidate functional … the goals of ENCODE, NHGRI has also funded four rounds of technology development research since 2003, with several of … and analysis. In all its phases, data sharing and information dissemination have been high priorities – success …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
… and statistical methods to decode the fundamental information within DNA sequences and to apply that information to help understand genome function and implement …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… by NHGRI SBIR grants allows entrepreneurs to focus more on technology building and less on scrambling for early … continuous DNA sequence ever generated. Since then, the technology has generated a 4.1 million base DNA sequence, the … of 343 species so far. “Our kits reveal chromosome-level information about the genome as well as interactions between …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… is nearly 20 years old and has been regularly updated as technology advances and researchers fix errors and discover … human genome sequence has gaps that reflect missing information, especially in areas that were repetitive and … the human pangenome reference, improve DNA sequencing technology, operate a coordinating center, conduct outreach …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… To test the large language models’ efficacy with information from real patients, the researchers asked … conditions. The models may therefore not have sufficient information about these conditions to make diagnoses. …
News Release
NIH will hold a Reddit "Ask Me Anything" with members of its NHGRI Ethical, Legal and Social Implications Research Program.
… What are the ethical implications of using genomic information to help manage the prevention, control and … - to study the potential societal implications of genomic information and research. Image credit: Darryl Leja, NHGRI … genetic tests, or questions that arise from using genomic information in medical care. This program is especially …
News Release
Genome: Unlocking Life's Code exhibition is going on tour after having completed a 14-month engagement at the Smithsonian's National Museum of Natural History.
… traits they have at the "Trait Tree," explore how much information their genomes can store despite their molecular … research at institutions across the country. Additional information about NHGRI can be found at www.genome.gov . … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . …
Statement
NHGRI Director, Eric Green, M.D, Ph.D., provides remarks for the March 31, 2022 media briefing about the series of publications reporting the first complete, gapless sequence of a human genome.