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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… Research Institute's (NHGRI) flagship Genome Sequencing Program (GSP) at a July 28 - 29 meeting in Bethesda, Md. … … community. Informed by the input received before the last program renewal (2012), the GSP was downsized by 20 percent … of the 1,000 Genomes Project, which examines human genomic variation. Identification of 500 or so novel genes involved …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral … questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included … counselor in the NHGRI in the Genomic Services Research Program (GSRP). … Julie Sapp, Genomic Services Research …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … from generation to generation due to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… toward the major role played by genetics in shaping such variation in dogs. … The Power of Comparison In a new study, … Institute (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for … dogs arises from a few "founder" dogs, therefore reducing genetic variation within each breed. This fact may make it …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … to treatments. … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … conducting clinical genetic testing, through its CLIA program. CLIA refers to the "Clinical Laboratory Improvement …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the … locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … A genetic map (also called a linkage map) shows the relative …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's … of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in … bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … Genomic medicine has the … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… scientific directors that led our Intramural Research Program (IRP): Jefferey Trent, Eric Green, Dan Kastner and … program August 4, 2022  Roundtable discussion: "Does genetic and genomic screening keep open the door to … study on the history of NHGRI human genomic variation programs from the Haplotype Map Project to the …