Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Advancing Genomic Medicine Research (AGMR)1
- 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
- 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
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 …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting discussed the current state of … in the U.S., as well as barriers and opportunities for expanded population screening, impact on clinical …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… the design phase, and we hope to begin late 2023. This is a ROUGH outline forwhat we plan to do. The program is … number/pager/email that any UAB physician can use to ask for assistance in ordering genetic testing. The initial … service in EPIC but it really just turned into a referral method as opposed to consultprocess. Vanderbilt …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… Tuesday, January 22, 2019 8:00 - 8:30 a.m. Registration 8:30 - 8:40 a.m. Welcome and Introduction … Part II: Scientific Issues 11:00 - 11:05 a.m. Deliverables for Part II NHGRI Staff Meeting Advisors 11:05 - 11:25 … should we be doing this into the future? What resources, new technologies and computational capabilities do we need to …
Event
NHGRI and George Mason University's Institute for Digital InnovAtion co-host the Computational Genomics Conference, on Wednesday, April 28, 2021.
… NHGRI and George Mason University's Institute for Digital InnovAtion co-host the 2021 Computational Genomics Conference. Computational and data science … and genomic advances benefit all. This workshop features a series of speakers sharing their expertise through use …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Tuesday, July 12, 2022 Time Topic Speaker 9:00 a.m. Welcome and Introduction Mark Adams, Ph.D. The Jackson … Moderators: Sabrina Krueger, Ph.D., Stowers Institute for Medical Research and Josh Tycko, Stanford University 9:10 … University in St. Louis 2:15 p.m. A Multiplexed in situ Method to Study the Combinatorial Code of Epigenetic Marks in …