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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 …
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 …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study to previous studies involving the African American population, we can … seen most often in people of West African ancestry, other studies have found these variants in people from Europe, …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… data use is consistent with those choices. For genomic studies involving the use of previously collected samples, … do not have [disorder]. You may learn something about your genome that relates to the health of your relatives. If so, … However, it is possible that the information from your genome, when combined with information from other public …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… website . Applications close in January.  All the best, … Genome-wide detection of somatic mosaicism at short tandem repeats … intramural research community, enabling powerful genomics studies across institutes and centers.  “For more than 25 …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Wednesday, November 6, 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of … Methylation and Transcriptomic Analyses with Whole Genome Sequencing YieldsNovel Insights into SARS-CoV-2 in …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Blood Advances , was led by researchers at National Human Genome Research Institute (NHGRI), part of NIH, The Johns … of breath, chest pain and fainting. While previous studies have demonstrated that in individuals with sickle …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… a PRS, researchers identify many locations across the genome that have been shown to be associated with a … of people. Unfortunately, most participants in genomics studies have primarily European ancestry. The lack of … found that accuracy was related to the regions of the genome involved in that PRS. Certain genomic regions led to …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… impulsivity — affects how the human brain ages. Previous studies have found that in other neurodevelopmental … Watch the recordings on the new TmT landing page on genome.gov . …  Every year, around two million children … They hope that by identifying regions of the human genome implicated in responses to malnutrition, better …
Policy Issues
En una decisión histórica en junio de 2013, el Tribunal Supremo determinó que el ADN en su forma natural no puede ser patentado.
… tribunal cuando la Asociación de Patólogos Moleculares ( Association of Molecular Pathologists ), la Unión Americana …