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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient … and comparative genome data. These tools are applied to  studies of cancer as well as other diseases.  Asks questions … for quality-of-life studies. We also work with both population scientists and clinicians to define gene profiles …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… the key determinants of health that affect individual and population health; genomics is one of these key determinants … useful to measure competency and can be built into case studies. Educators can also measure competency by embedding … this content could apply: Health assessment.  Domain 3: Population Health Genomics Nursing Scope and Standards of …
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.
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… How to Register Controlled-Access Studies  Study registration in dbGaP is required for large-scale human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing Plan.  Follow the …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… (GC3) : a set of unfolding, interactive genomic case studies that allows participants to interview patients and …
News Release
NHGRI hosts a Reddit "Ask Me Anything" about using virtual reality to study a host of questions about the human genome.
… diverse and underrepresented populations in genomics-based studies, a recent analysis found that individuals of European … hurdles of recruiting diverse participants in genomic studies, to the factors that play into creating diverse study … is important that when recruiting participants in genomic studies that you inform the prospective participant about the …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… standard for Down syndrome research, used in preclinical studies for nearly 30 years. Along with some successful …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… … A new role for zebrafish: larger scale gene function studies … A new method of targeting specific DNA sequences in …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… patients before they ever develop cancer. … All clinical studies are based on a set of rules or directions called a … approved by the FDA and marketed for public use. These studies continue testing the drug or treatment to collect … the experimental drug and who is in the control group. Studies are performed in this way so that neither the …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.