Genetics Home Reference
A comprehensive resource for genetic conditions and genes
Genetics Home Reference
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Type of site | Medical genetics |
| Available in | English |
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Genetics Home Reference (GHR) is a comprehensive online resource that provides information about genetic conditions and the genes or chromosomes associated with those conditions. It is maintained by the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH) in the United States.
Overview[edit | edit source]
Genetics Home Reference was launched in 2003 with the aim of making genetic information accessible to the general public, healthcare professionals, and researchers. The resource offers detailed descriptions of genetic conditions, the genes involved, and the impact of genetic variations on health. It is designed to be user-friendly and is written in language that is understandable to non-experts.
Content[edit | edit source]
The content on Genetics Home Reference is organized into several key sections:
- Genetic Conditions: This section provides information on a wide range of genetic disorders, including their symptoms, causes, inheritance patterns, and available treatments. Each condition is linked to relevant genes and chromosomes.
- Genes: This section includes detailed descriptions of individual genes, their normal functions, and how mutations in these genes can lead to health issues. It also covers the location of genes on chromosomes and their interactions with other genes.
- Chromosomes: Information about human chromosomes, their structure, and their role in genetics is provided. This section explains how chromosomal abnormalities can lead to genetic disorders.
- Help Me Understand Genetics: This educational section offers a primer on genetics, explaining basic concepts such as DNA, genes, chromosomes, and inheritance. It is designed to help users understand the scientific basis of genetic conditions.
Features[edit | edit source]
- Search Functionality: Users can search for specific genetic conditions, genes, or chromosomes using the search bar. The site also offers browsing by category.
- Illustrations and Diagrams: The resource includes visual aids to help explain complex genetic concepts, such as diagrams of chromosomes and illustrations of genetic inheritance patterns.
- Glossary: A glossary of genetic terms is available to help users understand technical language used in the descriptions.
- Links to Additional Resources: Genetics Home Reference provides links to other reputable sources of genetic information, including Genetic and Rare Diseases Information Center (GARD) and MedlinePlus.
Updates and Maintenance[edit | edit source]
The content on Genetics Home Reference is regularly reviewed and updated by experts in the field of genetics to ensure accuracy and relevance. The NLM collaborates with geneticists, healthcare professionals, and researchers to maintain the quality of the information provided.
Also see[edit | edit source]
- Genetic and Rare Diseases Information Center
- MedlinePlus
- National Library of Medicine
- Human Genome Project
- Genomics
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
