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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
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.  Return of Genetic Results: … will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… new participants at this time. For other COVID-19 related studies at the National Institutes of Health, visit: … trainees, and guest researchers may join in NIH studies if they wish to do so. You should not feel compelled … Policy for NIH Employees Participating in Medical Research Studies … Who can join? … What is involved? … For NIH …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
… the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). … … genome, as well as lay the groundwork for translational studies focused on specific human diseases. Dr. Baxevanis …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… Atopic Dermatitis (AD), also known as eczema. With these studies, we hope to lay the groundwork for development of … bacteria and fungi, contribute to this disease. With these studies, we hope to lay the groundwork for development of …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… mixed genetic lineages, researchers at the National Human Genome Research Institute (NHGRI), part of the National … as admixture. As such, the results from previous genome-wide association studies that do not account for admixture in …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… or undiagnosed conditions . Journal of Child and Family Studies . DOI: 10.1007/s10826-023-02645-6. Zajdel M., Keller …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… level of independence. We will explain the need for those studies to you (your child). They may include imaging studies such as a DEXA or MRI scan, energy expenditure or … identifier in the search box: NCT01780168. To find all studies related to inborn errors of metabolism, type "inborn …
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 …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… … ADHD often appears to run in families, and research studies have suggested that there may be a genetic component … to participating families. As with all of our research studies, participation is completely voluntary. You may …