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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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 … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data or … … NOT-HG-21-022 : Notice Announcing the National Human Genome Research Institute’s Expectation for Sharing Quality …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has …
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.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… September 2013. The GDS policy can be traced to the Human Genome Project, completed in 2003, which required rapid and … The GDS policy is an extension of and replaces the Genome-Wide Association Studies (GWAS) data sharing policy. Since 2007, …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or  Obtains, uses, studies, analyzes, or generates identifiable private …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … Lastly, although much has been learned about the human genome, there remains much to be discovered. Genomic … PubMed ] [5] Van Driest SL, Wells QS, Stallings S, et al. Association of arrhythmia-related genetic variants with …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… Program has funded research grants from investigators in a wide range of disciplines. Many of these projects have used … research). Add value beyond the genomics and ELSI research studies that are already ongoing at the applicant … issues raised by such research; 2) to conduct scholarly studies that inform the ethical practice of research; and 3) …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… Bruce Agnew … More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or … what information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for … to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, especially, disclosing …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… at interdisciplinary centers through the National Human Genome Research Institute's (NHGRI) Centers of Excellence in … in 2004, is designed to bring together experts in wide-ranging fields - bioethics, law, behavioral and social … . … Impact on Society … Related Content … NIH funds new studies on ethical, legal and social impact of genomic …