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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
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 …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… current approaches to the use of population descriptors in/for legacy data;   Define challenges with current approaches … (NIH) Institutes, Offices, and Centers* partnered to host a two-day virtual workshop on May 28-29, 2024, to further … Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field , with regards to legacy …
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 March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… Cancer Center  Wednesday, March 6, 2019 8:00 - 8:30 a.m. Introductions Geoff Ginsburg (Duke University) 8:45 - … Employers’ perspective on preemptive genomic screening in employee wellness Moderators: Geoff Ginsburg (Duke … medicine employee health program. Explore the potential for developing a consensus around the role of genomics in …
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 will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
… Thursday, September 26, 2019 9:00 - 9:15 a.m. - Welcome and Introductions Les Biesecker, Anastasia … Heidi Rehm, Marc Williams 10:30 - 11:00 a.m. - Goals for the Workshop and Results  Les Biesecker, Anastasia Wise … Genome Research Institute (NHGRI) is in the middle of a new round of strategic planning that will establish a ‘2020 …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. In the future, it is likely that genetic …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, Maryland, on February 2, 2017. The … advance the knowledge necessary to develop best practices for the implementation of genomic sequence data into clinical …