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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 April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… discover over 2 million additional genomic variants. Such information is valuable for gaining a comprehensive view … T2T consortium co-chair Karen Miga, Ph.D. , discuss the technology development that led to completing the human … follow us on Twitter #DNADay. … The NHGRI Genome Technology Program’s recently funded Technology Development …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… associated with the possible use of genome sequence information in the care of newborns. Specifically, NSIGHT … have examined the potential benefits of using such information to screen newborn infants for genetic conditions, … NHGRI hosted its 14th annual NHGRI Advanced Genomic Technology Development Meeting at Northeastern University in …
Health FAQ
Discuss these questions with your doctor or health care provider.
… long hospital stays. It is important to obtain specific information about the clinical trial or therapy you are … ask to speak with a genetic counselor if you need more information. … Every person’s experience may be different. … issues, may arise. Visit our resource page for additional information on how to combat common issues in the caregiver …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… FHIR’s ability to exchange genomics and genomics-related information among discrete healthcare systems? For example, … syntactic gaps related to the representation of genomic information in existing clinical data standards and models” … the recently appointed chief of NHGRI’s intramural Genome Technology Branch, Eric Green, proposed the idea of …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… recording metadata (i.e., data that provides relevant information about the data), using commonly accepted data … they plan to use. In addition, the draft supplemental information to the NIH Policy for Data Management and … scientific program management of grants related to mapping technology and the application of mass spectrometry to DNA …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… and director of the White House Office of Science and Technology Policy (OSTP), and Dr. Alondra Nelson will serve … analyses of the draft human genome sequence revealed information about the number of genes, mutation rates, and … mysteries to be explored in the decades ahead. For more information about the history of the Human Genome Project, …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… of the President’s Council of Advisors on Science and Technology. As he did throughout his almost 12 years as NIH … aim to facilitate timely learning and provide foundational information to aid in dialogues about current themes and … The polygenic risk score fact sheet describes how information about genomic variants can be used to calculate a …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… pointed out that “as we learn to read and interpret information coded in the living and evolving genomic history … check the National DNA Day webpage for the most up-to-date information. … NIH recently released its Fiscal Years … see the Funding Opportunity Announcement for additional information. … Formally established in 2020, the Global …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… of their tests. It is hoped that the availability of such information will decrease regulatory burdens and spur … expert-curated collection of genomic variant pathogenicity information. ClinGen also develops standards for the … Genetics and Genomics (ACMG). ClinGen has collected information on genetic variants across the genome, developed …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… sequence variants are relevant to disease. As a result, information on only a few genomic variants is used in … One factor that limits the clinical use of variant information is the lack of openly accessible knowledge bases … their phenotypic and functional effects and other clinical information. ClinGen investigators are developing standard …