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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Prenatal Genetic Diagnostic Tests Australia's Centre for Genetics Education - Overview of Prenatal Testing CBS News: … NLM - Genetic Testing Registry American Society of Human Genetics - Prenatal Cell-Free DNA Screening Infographics … Clinicians - A Guide to Genomic Test Results for Non-Genetics Providers American Society of Human Genetics - …
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… This past month, the American Society of Human Genetics (ASHG) released the Human Genetics and Genomics Workforce Survey Report, which lays a … to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report. The panelists …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… and ethical uses of these technologies?  Do such clinical interventions reify or reduce already existing …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… be consented and invited to an evaluation visit in the NIH Clinical Center; and 2) we will conduct a community outreach effort to recruit participants into the Clinical Center by leveraging the engagement of … obesity and hypertension that predispose to the eventual clinical signs and symptoms of CVD (e.g. heart attack and …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… it is recommended that you work with a medical or genetics professional to contact the laboratories for further … The laboratories listed below recently began performing clinical diagnostic testing for elevated levels of … The GeneTests Web site lists one laboratory as performing clinical diagnostic testing. This laboratory is located in …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… developing abnormal blood clots. Information courtesy of: Genetics Home Reference … The symptoms of factor V Leiden … of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have … 12. Additional Resources for Factor V Leiden Thrombophilia Genetics Home Reference: Factor V Leiden Thrombophilia …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.