Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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 relative locations of genes and other important features. … Genetic Map, … (also called a linkage map) shows the relative location of genetic markers (reflecting sites of genomic variants) on …
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 … criteria, adapted from the National Library of Medicine's Genetics Home Reference . Analytical Validity: Refers to how …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … The goal of the study, published March 23, 2017, in the American Journal of Medical Genetics , is to help healthcare …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Center (GARD) was created in 2002 by the National Human Genome Research Institute (NHGRI) and the former Office of Rare Diseases Research (now the Division of Rare Diseases Research Innovation at the National Center …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… researchers thought that if they could identify the tens of thousands of microbial species that live in or on human beings - the human microbiome - they would find …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… … NHGRI's 2020 Strategic Vision describes opportunities in human genomics for improving human health. … The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), this week published its “ Strategic vision …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… as well as in the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain … to Medical Genetics; Developmental Biology and Human Malformations; Inborn Errors of Metabolism; and Current … by both the Amercan Board of Pediatrics (ABP) and the American Board of Medical Genetics (ABMG). … Rotation Sites …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… era in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have produced the … methods will continue to create new opportunities in human genetics and genomics. … Additional Resources … About NHGRI …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… the gene lies on that chromosome. … Among the main goals of the Human Genome Project (HGP) was to develop new, better and … of the entire human genome, has greatly advanced genetics research. The improved quality of genetic data has …
For Patients and Families
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.
… pressure as an adult. Learning about the health history of your family and sharing this information with your health … Initiative . This goal of this campaign is to have all American families learn more about their family health … How do I find a genetic professional? … Can knowing about genetics help treat disease? … How is genetic information …