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Jennifer Lyon, MS, MLIS Eskind Biomedical Library Vanderbilt University Medical Center [email_address]
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.
What is the Human Genome? ,[object Object],[object Object],[object Object]
Genome Assembly ,[object Object],[object Object],[object Object]
Summary of Genome Assembly ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Genome Annotation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Maps and Tracks ,[object Object],[object Object],[object Object],[object Object],[object Object]
Why All These Maps? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Types of Maps ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Cytogenetic Maps ,[object Object],[object Object]
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.
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.
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.
Scale for Genetic Maps ,[object Object],[object Object],[object Object],[object Object]
Physical Maps ,[object Object],[object Object],[object Object],[object Object]
Sequence-Based Maps ,[object Object],[object Object],[object Object],[object Object]
Accessing the Human Genome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
NCBI Map Viewer Let’s Go Live:  http://www.ncbi.nlm.nih.gov/
ENSEMBL Let’s Go Live:  http://www.ensembl.org
UCSC Genome Browser ,[object Object]
Practice Questions (1) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Practice Questions (2) ,[object Object],[object Object],[object Object]
Practice Questions (3) ,[object Object],[object Object]

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Human Genome 2009

  • 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.
  • 3.
  • 4.
  • 5.
  • 6.
  • 7.
  • 8.
  • 9.
  • 10.
  • 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.
  • 14.
  • 15.
  • 16.
  • 17.
  • 18. NCBI Map Viewer Let’s Go Live: http://www.ncbi.nlm.nih.gov/
  • 19. ENSEMBL Let’s Go Live: http://www.ensembl.org
  • 20.
  • 21.
  • 22.
  • 23.