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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
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… to 4:30 p.m. ET Prediction: The regular use of genomic information will have transitioned from boutique to … associated dataset contains over 3 million profiles, with information about over 40,000 small molecules and … PRIMED will provide the research community with information that will allow the development of clinical …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing … than a couple of decades ago. Affordable sequencing technology is critical to the diagnosis of sickle cell … of the National Human Genome Research Institute … For more information, visit: Sickle cell disease gene therapy …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… in the human genome. These studies provide more accurate information about the genomic variants within 622 medically … Green, M.D., Ph.D., director of NHGRI. “This foundational information will strengthen the many ongoing efforts to … Maryland; and the National Institute of Standards and Technology, Gaithersburg, Maryland. The package of six papers …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
News Release
New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome.
… funds are necessary for making advances in DNA sequencing technology and computational methods possible. As a result, … will coordinate with the National Center for Biotechnology Information, to form the WashU-UCSC-EBI Human Genome … and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . …
The Genomics Landscape
In the February 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Genome Statute and Legislation Database, which recently received a major revamp to help researchers, policy analysts, and the public more easily find state-level legislation related to genomics.
… to clinical management that incorporates patients' genetic information, medical health records, and individual … amounts of biological samples and the associated health information about the individuals who provided those samples. … most state-level legislative databases have limited information available or have barriers to access, such 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
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
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 …