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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
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
… associated with the possible use of genomic sequence information during the newborn period. The NSIGHT program … associated with the possible use of genomic sequence information during the newborn period. … NSIGHT explores the … associated with the possible use of genomic sequence information during the newborn period. … Event …
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.
… feature identifying ten key advances in applying genomic information to clinical care that were reported in the … feature identifying ten key advances in applying genomic information to clinical care that were reported in the … feature identifying ten key advances in applying genomic information to clinical care that were reported in the …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Multi-omics Michael Snyder, Stanford University Session 2: Technology, Data Integration and Study Design Moderator: Dave … 3:05 p.m. Presentation 1 - Experimental and Computational Technology / Big Data Xihong Lin, Harvard University 3:05 - … Institute 3:45 - 4:00 p.m. Break Guided Discussion - Technology, Data Integration and Study Design Moderator: Ajay …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… studies and pedigrees. Over the last two decades, however, technology has enabled population-based association studies … School of Biological Sciences Georgia Institute of Technology  Goddard, Michael                           … Associate Professor, Cognitive & Information Science University of California, Merced  …
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 …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
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.
… For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing … than a couple of decades ago. Affordable sequencing technology is critical to the diagnosis of sickle cell … of the National Human Genome Research Institute … For more information, visit: Sickle cell disease gene therapy …
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.
… and population health genomics. Ideally, this genomic information would travel with the patient and the clinical … care and could be extended through the use of wearable technology. Artificial intelligence models could predict and …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.