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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… the case that variants in many genes contribute to the risk of developing traits and diseases. Scientists and … use tools called polygenic scores to calculate such a risk by combining information about all the genomic variants associated with a disease. Many examples of using polygenic scores have been …
Outreach
Five pieces from the Genome: Unlocking Life’s Code exhibition are now on display at the National Institutes of Health (NIH) campus in Bethesda, MD.
… and your microbiome affect your health and influence your risk for many disorders.   What’s in Your Genome?     … Presentation: The Dog Genome: Shedding Light on Human Disease Dogs have been called a person's best friend, but they also can tell us a lot about human disease. Dr. Elaine Ostrander discussed how her lab at the …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… two gene therapies for the treatment of sickle cell disease. About 100,000 Americans and millions of people around the world have sickle cell disease, and this treatment offers great promise for … of using genomic information for screening, diagnosis, and risk assessment in healthcare. …  The Global Biodata …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… signature that could help in determining a person’s risk for type 2 diabetes and could inform future research … opportunities for understanding RNA’s role in health and disease. You can read more about the report in a new feature … investigator and head of NHGRI’s Inflammatory Disease Section (as well as a former NHGRI scientific …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
… help determine whether someone has an increased genetic risk of having or developing certain diseases, disorders or …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… the chance to identify a previously unrecognized risk for disease that could change the medical management of … and potentially prevent or more effectively treat the disease. … A secondary genomic finding refers to a genomic …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… controlled access are: 1,000 Genomes, Centers for Common Disease Genomics, Centers for Mendelian Genomics, Whole … open-source, web-based platform for family-based monogenic disease analysis) into its suite of tools, which also … about current themes and issues in genomics. The polygenic risk score fact sheet describes how information about genomic …
Event
On October 25-29, 2022, 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.
… 8:00 p.m. Mendelian Phenotypes Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal … of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd … in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley Convention …