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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- 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
Policies and Guidance
NHGRI does not collect personally identifiable information about you on genome.gov unless you volunteer to provide it.
… does not disclose, give, sell, or transfer any personal information about visitors to its websites, unless required … protecting your privacy. We will not collect any personal information about you when you visit our website (other than … or general issues related to genomics research and genomic medicine. In effort to bring science education to the …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely … technologies. Data pertinent to the interpretation of genomic data — such as associated phenotype data (e.g., clinical information relevant to the disease under study), exposure …
Your Genome
Information about the relationship between genomics and health for patients, families and health professionals.
… and your family. Our resources will help you find detailed information about genetic disorders, the new science of … providing health professionals with reliable, up-to-date information on the rapidly expanding field of genomics.  … … … Polygenic risk scores … Family Health History … Health … Information about the relationship between genomics and …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… to find applications in clinical care. The field of "genomic medicine" could potentially improve patient health … The IGNITE demonstration projects will incorporate genomic information into the electronic medical record (EMR) …
About NHGRI
The Genomics and Society Working Group advises on planning and priorities for genomics and society activities at NHGRI.
… of Genomics and Society in light of changes in genomics, genomic medicine, and the policy landscape, aiming to … Genomics Legislation, Privacy And Genomics, Genetic Information Non-discrimination Act (GINA) … The Genomics and …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… of Patients with GNE Myopathy collects genetic and medical information from people with GNE myopathy. Patients are … the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment … region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med,  5(4):410-417. 2017. [ PubMed ] Xu, X., A. Q. …
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.
… 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, …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … play a role in human disease. However, there is limited information about how any of those variants specifically …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… Important information about RFAs, upcoming dates, frequently asked … a pre-application interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding … below. … What information can be used to formulate a genomic risk assessment and management plan? Each genomic …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is provided … to newborn screening: Acquisition and analysis of genomic datasets that expand considerably the scale of data … sequencing of newborns provide? What additional clinical information could be learned from genomic sequencing relevant …