The document provides an overview of the Human Genome Project and genome mapping. It discusses that the Human Genome Project was a 13-year effort beginning in 1990 to sequence the human genome. Key results were published in 2003 establishing the full sequence. It then describes what a genome is and the process used to assemble the genome sequence. Different types of maps are explained including cytogenetic, genetic, physical, radiation hybrid, clone-based, and sequence-based maps. Various online resources for accessing and viewing the human genome are also listed.
1. Jennifer Lyon, MS, MLIS Eskind Biomedical Library Vanderbilt University Medical Center [email_address]
2. Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. Landmark papers detailing sequence and analysis of the human genome were published in the April 2003 issues of Nature and Science . Continued work has been done since to check, complete, describe, and understand the sequence. The full sequence is freely available online to anyone with internet access.
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11. The pattern of bands on each chromosome is unique. The detail of the banding pattern has increased as microscope power has increased over time. Each human chromosome has a short arm ("p" for "petit") and long arm ("q" for "queue") , separated by a centromere . The ends of the chromosome are called telomeres . The ends of the chromosomes are labeled ptel and qtel. For example, the notation 7qtel refers to the end of the long arm of chromosome 7.
12. The cytogenetic bands are labeled p1, p2, p3, q1, q2, q3, etc., counting from the centromere out toward the telomeres. At higher resolutions, sub-bands can be seen within the bands. The sub-bands are also numbered from the centromere out toward the telomere.
13. pedigree a simplified diagram of a family's genealogy that shows family members' relationships to each other and how a particular trait or disease has been inherited.