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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- 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
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and social-behavioral research can provide insights and discoveries that could not … discoveries and achievements, including the complete sequencing of the human genome and identification of genetic …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… Ph.D. … A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions. … The National Institutes of Health will fund clinical trials to assess the benefits, applicability and … treatments. These projects build upon the first phase of research from the IGNITE Network, which the National Human …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is … Identification of GNE gene disease-causing variants by DNA sequencing can confirm the diagnosis. GNE Myopathy patients … can we all participate? Yes! As long as each person has evidence of a diagnosis of GNE Myopathy and signs informed …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… Eric Green, M.D., Ph.D. , Director, National Human Genome Research Institute Keynote Session: What are the … Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. … …  … Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics … To bring together …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family … may want to participate in this study. We will utilize new sequencing technology and social science approaches to … Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning about Sickle Cell Disease …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration … some care as part of your participation. To receive clinical care, you should consult your regular physician. How … and results database of federally and privately supported clinical trials conducted in the United States and around the …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … Virtual Participation | Participate Now ! … Clinical Research Studies … Meet the Team … Additional Resources … …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is provided jointly by the Eunice … of data available for analysis in the newborn period. Clinical research that will advance understanding of specific … (ELSI) of the possible implementation of genomic sequencing of newborns.  Each research project collects a …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… The National Human Genome Research Institute supports research and training and career … Advancing Genomic Technology Development for Research and Clinical Application: NOT-HG-24-036  Investigator Initiated … 3, 2024  Population Genomic Screening in Primary Care Sequencing Center (U01 - Clinical Trial Optional) …
Talking Glossary
The genome reference sequence provides a general framework and is not the DNA sequence of a single person.