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Initial Principles and Goals of the Human Genome
Project
From its
inception, the Human Genome Project revolved around two key principles
(International Human Genome Sequencing Consortium, 2001).
(i) First, it welcomed collaborators from any nation in an effort to move beyond borders, to establish an all-inclusive effort aimed at understanding our shared molecular heritage, and to benefit from diverse approaches. The group of publicly funded researchers that eventually assembled was known as International Human Genome Sequencing Consortium (IHGSC).
(ii) Second, this project required that all human genome sequence information be freely and publicly available within 24 hours of its assembly. This founding principle ensured unrestricted access for scientists in academia and in industry, and it provided the means for rapid and novel discoveries by researchers of all types. At any given time, approximately 200 labs in the United States were funded by either the National Institutes of Health or the U.S. Department of Energy to support these efforts. In addition, more than 18 different countries from across the globe had contributed to the Human Genome Project by the time of its completion.
Just as the Human Genome Project revolved around two key principles, it also started with two early goals:
(1) building genetic and physical maps of the human and mouse genomes, and
(2) sequencing the smaller yeast and worm genomes as a test run for sequencing the larger, more complex human genome (IHGSC, 2001).
When the yeast and worm efforts proved successful, the sequencing of the human genome proceeded with full force.[42]
(i) First, it welcomed collaborators from any nation in an effort to move beyond borders, to establish an all-inclusive effort aimed at understanding our shared molecular heritage, and to benefit from diverse approaches. The group of publicly funded researchers that eventually assembled was known as International Human Genome Sequencing Consortium (IHGSC).
(ii) Second, this project required that all human genome sequence information be freely and publicly available within 24 hours of its assembly. This founding principle ensured unrestricted access for scientists in academia and in industry, and it provided the means for rapid and novel discoveries by researchers of all types. At any given time, approximately 200 labs in the United States were funded by either the National Institutes of Health or the U.S. Department of Energy to support these efforts. In addition, more than 18 different countries from across the globe had contributed to the Human Genome Project by the time of its completion.
Just as the Human Genome Project revolved around two key principles, it also started with two early goals:
(1) building genetic and physical maps of the human and mouse genomes, and
(2) sequencing the smaller yeast and worm genomes as a test run for sequencing the larger, more complex human genome (IHGSC, 2001).
When the yeast and worm efforts proved successful, the sequencing of the human genome proceeded with full force.[42]
Summary of the 1998-2003 Goals for
the United States Human Genome Project
Human Genome Sequence:
>> Working draft version for at least 90% of the genome by 2001
>>Complete human genome sequence by 2003
>>Development of a sustainable capacity for large-scale sequencing
>> Generation of large contiguous stretches of high-quality sequence
>> Provision of ready access to the data
Sequencing Technology:
>> Continued improvements in current sequencing methodologies with emphasis on increasing output and decreasing cost
>> Support interdisciplinary research for developing andimplementing novel sequencing technologies
Human Sequence Variation:
>> Develop technologies for rapid, large-scale identification and scoring of single nucleotide polymorphisms (SNP) (variance of different copies of the same chromosome)
>> Identify and catalog common variants in the coding regions of the majority of human genes
>> Create a human SNP map of at least 100,000 markers
>> Establish the intellectual foundations and requisite public resources of DNA samples for study
Technology for Functional Genomics:
>> Generate complete sets of full-length cDNA clones for humans and model organisms
>> Develop the technology for defining the spatial and temporal patterns of gene expression
>> Design new strategies for the global study of non-coding sequences
>> Design new approaches for systematic mutagenesis of genes
>> Advance the understanding of protein function on a genome-wide basis
Comparative Genomics:
>> Complete the sequence of the C. elegans genome by1998 and the Drosophila genome by 2002
>> Develop more detailed physical, genetic maps and additional cDNA resources for the mouse genome by 2005
>> Identify and initiate studies on other model organisms that will markedly contribute to understanding the human genome
Ethical, Legal, and Social Implications (ELSI):
>> Examine the issues surrounding the completion of the human genome sequence and the study of human genetic variation
>> Study the issues raised by the integration of genetic technologies and information into health care, public health activities, and non-clinical settings
>> Explore how the new genetic information will influence various societal issues related to genetics
Bioinformatics and Computational Biology:
>> Develop better tools for data generation and capture
>> Improve the content and utility of databases
>> Create mechanisms for sharing and disseminating exportable software
>> Construct appropriate tools and databases for dealing with comprehensive studies of gene expression and function as well as with sequence homology and variation
Training and Manpower:
>> Facilitate the training of new scientific specialists with expertise in genomics research
>> Recruitment of non-biological scientists from fields such as computer science,engineering, mathematics, physics and chemistry
>> Aid in the establishment of academic career paths for genome scientists
>> Increase the number of scholars who are knowledgeable both in genetics and in ethics, law, and social sciences [43]
Summary of basic HGP goals
1. Identify all estimated 50,000-100,000 genes in human DNA
2. Determine sequence of 3 billion chemical bases that make up human DNA
>> Human DNA sequence goals:
* Achieve coverage of at least 90% of Genome in working draft by the end of 2001
* Finish one-third of the human Genome sequence by end of 2001
* Finish complete human Genome sequence by end of 2003
* Make sequence totally and freely accessible
3. Store information in databases
4. Develop faster, more efficient sequencing technologies
5. Develop tools for data analysis
6. Map genomes of select non-human organisms
7. Address ethical, legal, and social issues (ELSI) that may arise from project [44]