The Human Genome Project
October 23, 2007

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I. How do we Sequence DNA?

1. DNA Sequencing: 1975 - 1991: Sanger dideoxy sequencing

2. DNA Sequencing 1992 - present: Automated DNA Sequencing
Also called capillary array electrophoresis

 

2. The Human Genome Project :

 

Phase I - Conceptualization / Initiation : (~1985-1990)

The Human Genome Project - Infrastructure:

1. National Human Genome Research Institute (NHGRI / NIH / HHS) Dr. Francis Collins
2. Department of Energy genomes.org (ORNL / Oak Ridge National Labs) Dr. Ari Patrinos

 

Phase II - The First '5' years: 1990-93

The Human Genome Project - Goals

 

Phase III -Gathering Speed: 1993 - 1998

• Revised 5-Year Research Goals of the U.S. Human Genome Project (1993-1998) [Good summary table]
• Big Result from this period -1997: A Gene Map of the Human Genome 5 September 1997 Woo hoo!

Phase IV - Reorientation, October 1998-2001

• New 5-Year Goals for the U.S. Human Genome Project: 1998-2001 In October, the Human Genome Project announces a 'Fast Track' for Early Completion, approving new new 5-year goals aimed at completing the Human Genome Project in 2003, generating a "working draft" of the human genome DNA sequence by 2001. PS. "It's NOT a race"
• Milestones:
  * Human Chromosome 22 Completed: First Human Chromosome to be Sequenced, December 1999
  * Human Chromosome 21 Completed, May 2000
  * Draft Sequences of Human Chromosomes 5, 16, 19 Completed, April 2000

Phase V - Finishing (2001-2005): Research Milestones

• April 13, 2003...Finished Sequence for gene containing regions - 13 years after the HGP began; 2 years ahead of schedule, and in time for the 50th anniversary of the Watson and Crick publication of the structure of DNA: "International Consortium Completes Human Genome Project: All Goals Achieved; New Vision for Genome Research Unveiled."
• The Finished sequence produced by the Human Genome Project covers about 99 percent of the human genome's gene-containing regions, and it has been sequenced to an accuracy of 99.9% (no more than 1 error in 10,000). Press release
• Human Chromosome Y Completed, June 2003.
• Human Chromosome 7 Completed, July 2003.....

• And see ALL the rest at Nature's Human Genome Collection! Woo Hoo!
• The Finished Sequence for Euchromatin Nature 431, 931 - 945 (21 Oct 2004) 2,851,330,913 nucleotides finished, at an error rate of 0.01 (99.99% correct)!
• 27 October 2005: the HapMap!

A Quick Guide to Sequenced Genomes:

 

3. The Human Genome Project - What have we learned? A genome summary Like, wow!

See also: A Users Guide to the Human Genome Nature Genetics
Our Genome Unveiled by Nobel Laureate David Baltimore, Cal Tech
Top 10 Things We Learned about the Human Genome Sequence Francis Collins

 

4. The Human Genome Project - What is still on the "to do" list?

 

 

5. Tools for Searching the Genome

 

Three GREAT Genome Resourses - keep for your future! :)
1.   NCBI - Genomic Biology - Homo sapiens From NCBI. The definitive resource for the human genome.
2.   Interactive Center Wellcome Trust A GREAT chromosome/gene browser - find genes, gene functions, disease states, on each chromosome
3.   Nature’s guide to the human genome: Another GREAT chromosome/gene browser - find original research papers adssociated with genes on each chromosome

 

 

 

 

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Schedule