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Genetics Home Reference

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Genetics Home Reference is the National Library of Medicine Web site for consumer information about genetic conditions and the genes and chromosomes related to those conditions. This resource provides a bridge between the public’s questions about human genetics and the rich technical data that has emerged from the Human Genome Project and other genomic research. Created for the general public, particularly patients and their families, the Genetics Home Reference Web site currently includes user-friendly summaries of more than 1,100 genetic conditions, more than 1,300 genes, all the human chromosomes, and mitochondrial DNA. The Web site also includes a primer called Help Me Understand Genetics, which provides an illustrated introduction to fundamental topics in human genetics including mutations, inheritance, gene families, the genetics of normal human traits, genetic testing, newborn screening, gene therapy, genomics research, and precision medicine. Genetics Home Reference provides links to information from the National Library of Medicine, the National Institutes of Health, and other U.S. Government agencies.

Genetics Home Reference has been on the Web since 2003. The Web site was redesigned in 2016 with an improved look and feel and better navigation. It is completely confidential; no registration or personal information is required. Topics are added and updated on a regular basis and reviewed by experts in human genetics.

Publications/Tools: 
Mitchell JA, Fun J, McCray AT. Design of Genetics Home Reference: A New NLM Consumer Health Resource Journal of the American Medical Informatics Association. 2004 Nov.;11(6):439-447.
Mitchell JA, McCray AT. The Genetics Home Reference: A New NLM Consumer Health Resource AMIA Annu Symp Proc. 2003:936

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