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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long … at 12 p.m. ET, a poster session at the American Society of Human Genetics (ASHG) Annual Meeting held Oct. 15-19, 2019, a … provides comprehensive treatment for inherited blood and immune diseases Genome: Unlocking Life's Code September 2019 …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2020.
… - Mendelian Genomics Data Coordinating Center (U24) 14 Human Genome Reference Program (HGRP) HGRP Website Human Pangenome Reference Consortium 15 Technology … ELSI Virtual Forum ELSI Virtual Forum Registration 22 Human Heredity and Health in Africa (H3Africa) H3Africa …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2019.
… and Career Development 26 Genomic Innovator Awards 27 Human Microbiome Project (HMP) iHMP Nature Collection HMP … Visualization, and Informatics Lab-Space (AnVIL) 30 Human Heredity and Health in Africa (H3Africa) H3Africa … Investigator (Max Muenke) 41 International Summit in Human Genetics and Genomics 42 NHGRI Intramural Research …
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… GA4GH DUO standard , which enables the secondary use of human genomics and other controlled-access data in compliance … extents and have provided feedback on the potential of the system to support NIH’s needs. The goal of the pilot was to … review and approval times of researcher DARs. … National Human Genome Research Institute (NHGRI) National Institute …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
FAQ
On September 6, 2023, the National Human Genome Research Institute hosted a pre-application webinar for the genomics-enabled learning health systems (gLHS) NOFOs: RFA-HG-23-041 and RFA-HG-23-042. Questions were answered during the webinar.
…  The RFA is situated at the intersection of QI and Human Subjects (HS) research. A significant challenge arises … interpretations of implementation interventions as either human subjects or quality improvement research. Additionally, … projects. … Do applicants need to have a learning health system in place to apply?  Yes, given the significant amount …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… one of the most severe of adverse reactions affecting any system in the body. It impacts about 1-3 people per million … Wanpen Anderson. SJS/TEN occurs with an attack from the immune system and starts with a fever and flu-like symptoms. … of the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI). "Now, we need to …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the …
Virtual Exhibit
The Human Genome Project changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
… letter, which circulated and spurred the anti-Human Genome Project letter campaign. The first line of the letter reads “The human genome project: mediocre science, terrible science … the University of Kentucky Medical Center, argued that the Human Genome Project would not draw new professionals in …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… team has generated the first truly complete sequence of a human Y chromosome , the final human chromosome to be fully sequenced. The new sequence, … Consortium, a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National …