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Updated: Aug 1, 2026
22:27
Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
Published on: May 6, 2010
A gene map of the human genome
G D Schuler1, M S Boguski, E A Stewart
1National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA.
Science (New York, N.Y.)
|October 25, 1996
Summary
Scientists mapped over 16,000 human genes using sequence tagged site markers. This integrated gene map accelerates the discovery of genes linked to inherited diseases, aiding genetic research.
Area of Science:
- Human Genetics
- Genomics
- Bioinformatics
Background:
- The human genome contains an estimated 50,000-100,000 genes.
- Approximately half of these genes have been identified via expressed sequence tags.
- A comprehensive gene map is crucial for understanding genetic diseases.
Purpose of the Study:
- To develop and map gene-based sequence tagged site (STS) markers.
- To integrate genetic, physical, and sequence data for the human genome.
- To facilitate the identification of genes associated with inherited human diseases.
Main Methods:
- An international consortium utilized radiation hybrid panels and a yeast artificial chromosome library.
- Over 16,000 human genes were mapped.
- A framework map with approximately 1000 polymorphic genetic markers was established.
Main Results:
- A comprehensive gene map integrating genetic and physical maps was created.
- The map links nucleotide and protein sequence databases.
- Over 16,000 human genes have been localized.
Conclusions:
- The integrated gene map is a valuable resource for genetic research.
- This resource is expected to accelerate the discovery of disease-related genes.
- The map is accessible online, promoting collaborative research.
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