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The HGP scientists are very optimistic, as they are already two years ahead of schedule. According to Dr. Ari Putrinos, Department of Energy Associate Director for Biological and
Environmental Research, "Although we have as our primary goal, the finished 'book of life' by the end of 2003, we also want the working draft (of the human
genome) to be as useful as possible."
But what are the official research goals of the HGP? How far have they come towards reaching these goals? National Institute of Health and Department of Energy
sequencing centers expect about 60-70% of the human DNA sequence to be generated in their facilities. Also, one of the more challenging technical aspects is the
top priority of generating complete sets of full length cDNA clones and sequences for both human and model organism genes. Studies into gene expression and
control, the creation of mutations causing loss or altering of functioning in non-human organisms and finally development of experimental and computational methods
for protein analysis are other functional genomics goals.
Read on to discover the answers to your questions.
Research Goals - October 1, 1998 to September 30, 2003. (Five year plan #3)
The research goals of the third five year plan are divided
into eight subsections, each dealing with a different aspect of the HGP.
(An A means accomplished on time, and F means accomplished a year early)
1. Human DNA Sequence
Finish complete human genome sequence by end of 2003.
Finish at least one-third of the sequence by 2001.
A-2000
Achieve coverage of a minimum of 90% of the human genome in a working draft model based on mapped clones by the end of 2001.
Make the entire human gemone sequence totally accessible free of charge.
1. Human DNA Sequence
Finish complete human genome sequence by end of 2003.
Finish at least one-third of the sequence by 2001. A-2000
Achieve coverage of a minimum of 90% of the human genome in a working draft model based on mapped clones by the end of 2001.
Make the entire human gemone sequence totally accessible free of charge.
2. Sequence Technology
continue to increase the throughput and decrease the cost of our current sequencing technology.
back research on novel technologies which may lead to important improvements in sequencing technology.
develop effective methods for advanced creation and introduction of new sequencing technology into the sequencing methods of today.
3. Human Genome Sequence Variation
develop technology for quick mass identification and/or scoring of single nucleotide polymorphisms and other DNA sequence variances.
identify common variants in the coding regions of most of the identified genes over the course of the S year period.
build and SNP map of a minimum of 100,000 markers.
create the intellectual bases for studies of sequence variations
make DNA samples and cell lines public resources.
4. Comparative Genomics A-2000
complete fruitfly, Drosophilia's, sequence by 2002.
develop combined physical and genetical map for a laboratory mouse and create new mouse cDNA resources.
complete mouse sequence by 2008.
identify other potentially useful model organisms and provide backing for appropriate genomic studies.
5. Ethical, Legal, and Social Implications (ELSI)
study ELSI surrounding the finale of the HGP and studies of the gene variation.
study ELSI created by introduction of genetic technology into health care and public health activities.
examine ELSI generated by introduction of genetics and genomics (gene-environment interactions) in non-medical situations.
explore how new genomic and genetic information may interact with different philosophical, theological, and ethical viewpoints and ideas.
research how racial, ethnic, and socioeconomic differences may change the usage, knowledge, and understanding of genetic information, services, and the
development of a policy and/or laws on such things.
6. Functional Genomics Technology
create complete cDNA clones and sequences which stand for genes of humans and model organisms.
provide support for studies into methods on researching functions of non-protein-coding DNA sequences.
create technology for complete analysis of gene expression.
improve pre-existing methods for genome-spanning mutagenesis.
create technology for mass protein examination.
7. Bioinformatics and Computational Biology
create better databases.
create better ways to facilitate data generation, capture, and annotation.
create new and improve pre-existing facilities and databases for complete functional genetic and genomic research.
improve on pre-existing and generate new tools for representing and examing similarities and changes in sequences.
develop mechanisms to support effective, exportable, durable software for data sharing.
8. Training and Manpower
nurture training of genome scientists.
encourage the creation of academic career paths for these scientists.
increase the number of scholars trained in ethics, law, and social sciences who also have knowledge of genomic and genetic studies. In essence, create genetic
and/or genomic lawyers and judges for examining the purposes outlined in the ELSI section.
Through all this, however, the top priority of the HGP remains to obtain and make publicly available a comprehensive and accurate gene/DNA reference sequence.
The accuracy they are shooting for is one error in 10,000 bases. Again, the other top priority goals are to identify all 100,000 human genes and to determine the
sequences of the 3,000,000,000 chemical bases that human DNA is comprised of. The five year plan has already made incredible progress and left its mark on
history by creating an initial sequencing of the genome a year ahead of schedule. However, the five year plans that are its predessesors cannot be overlooked
either. The original plan, from 1990 -1998 was finished in 1993 due to astounding progress by this ground-breaking project. The second five year plan, realigned
from 1993-1998 also met great success. The third plan is set to accomplish the entire goals list of the project by 2003, two years before the original ending date of
the project. While their true goal may the "The Complete Book of Life" as Dr. Patrinos said, their written goals are many and diverse. Progress has been their ally
thus far and the world's population eagerly awaits the completion of the project when all of the HGP's goals have become realized.
Interesting Facts
The goal of making all information on the HGP available to individual researchers was completed in June 2000, when Celera Genomics of Maryland announced
its truce with the International Genome Project Consortium, which consists mainly of the US HGP and British researchers, as well as others from Japan, France,
Germany, China and about nineteen other countries.
In March 1999, part of five year plan # 3 (98-03) was accelerated. The goal of a fully working draft of the genome was changed from 2001 to 2000.
This goal was not accomplished until June 2000. (It was announced on June 26.)
The US HGP reached its midpoint in April 1998, right before the finishing date was moved from 2005 to 2003.
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