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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… to ELSI Research Data sharing templates and resources Q&A from webinar participants For questions about this informational webinar, please email … hosts an informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy , on …
Event
Webinar to discuss NHGRI's support of a new Human Genome Reference Program beginning in fiscal year 2020.
… Additional Resources … Contacts … NHGRI will fund a new Human Genome Reference Program (HGRP) beginning in fiscal … high quality reference genomes, research and development for reference representations, informatic development, and …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… Search for specific publications by title, author, category and/or … The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … inherited retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Genome sequencing may be the method of choice for detecting repeat expansion disorders …
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.
… and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years … of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come … directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing …
Events
Data sharing has been a central tenet of the field of genomics since the Human Genome Project.
… Presentation Slides … Data sharing has been a central tenet of the field of genomics since the Human … data too broadly and openly. It is immensely challenging for institutions and countries to balance these benefits and … sharing and discuss current efforts to create and ensure new and improved genomic data sharing policies and practices …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
… National Human Genome Research Institute (NHGRI) will host a seminar, " Genomics, Imaging and AI - three technologies … clinical applications. Lastly, he will provide perspective for the future of these technologies with their impressive … pitfalls to avoid. Request an Accommodation All times are in ET. … Lipsett Amphitheater … MD … 10 Center Dr, Bethesda, …
Event
NHGRI hosted the virtual Advanced Genomic Technology Development Meeting on May 27-29, 2020.
… have insights that could synergistically help to develop a broad suite of novel methods. Activities are designed to update fellow grantees and NHGRI about progress in the field and specific funded projects, facilitate collaborations, and provide a forum that effectively serves the entire set of …
Event
For researchers interested in applying to the Genomic Innovator Award funding opportunity
… Date: October 31, 2020 Notice of Pre-Application Webinars for the NHGRI Genomic Innovator Award NOT-HG-20-053 … Funding … … The National Human Genome Research Institute hosted a pre-application webinar for researchers interested in applying to the Genomic Innovator Award funding …