Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
Educational Resources
Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism.
… … Epigenetics is an emerging field of science that studies heritable changes caused by the activation and … to the next. The collection of all epigenetic changes in a genome is called an epigenome. … Epigenetics is an emerging field of science that studies heritable changes caused by the activation and …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
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 …
News Release
Researchers are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall.
… prescribing practices. This means including in drug studies people from diverse social, racial and ethnic, and … "Inclusion of diverse people in longitudinal drug studies will advance knowledge about the similarities and … to guide drug selection and dosing." Longitudinal studies are those that are conducted over long periods of …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive … of sexual development, but other genes throughout the genome play a role. This complex process gives rise to the … … Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… The study was led by scientists at the National Human Genome Research Institute (NHGRI) and the National Institute … del Aguila III, NHGRI. With the broader adoption of genome sequencing in clinical care, researchers and the … if they would like to receive them. But research studies should create a system that also allows people who do …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Buffalo … Biographies … Slides (PDF) … The National Human Genome Research Institute (NHGRI) and The State University of New York at Buffalo Center for Disability Studies will hold a two-day symposium entitled, “Irreducible … NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… new approach will be used as a framework for publishing studies on polygenic risk scores. … Scientists and healthcare … the research teams, funded primarily by the National Human Genome Research Institute (NHGRI), have published a 22-item … studies. This framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group …
News Release
NIH researchers researchers and collaborators have gained some key insights into the biological inner-workings of regrowing a body, the evolution of aging and a unique method to dispose of aging cells, by studying the genomes of a hermit crab (Hydractinia symbiolongicarpus).
… new perspective on how aging evolved. View on YouTube “Studies like this that explore the biology of unusual … of the Intramural Research Program at the National Human Genome Research Institute (NHGRI), part of NIH. “Such … pointed to senescence, the researchers scanned the genome of Hydractinia for sequences like those of …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… as well as translational medicine and social science studies, to advance our understanding of this widespread … effective therapies. For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing being over a million-fold less expensive …