The Human Genome

Paper Summary:

This paper discusses how, since the publication of the human genome sequence in 2001, biologists have developed and applied a range of novel technologies in an attempt to extract the valuable biological information encoded within the genome sequence. In particular, it examines they way in which we have set about decoding the human genome to date and provides an insight into some of the progressive new technologies currently under development.

Outline
Objectives and Achievements of the HGP
Computational Biology and Genome Annotation
Comparative Genomics
Functional Genomics
Genetic Perturbations
The Transcriptome
The Proteome
The Interactome
Conclusion: The Rise of Systems Biology

From the Paper:

"The objectives of the HGP can be considered as four overlapping goals: 1. The construction of high resolution genetic and physical maps. 2. A high quality, complete genomic sequence. 3. Identification of sequence variation within the human genome. 4. A complete list characterising each and every gene. Both working drafts have achieved almost complete sequencing of the euchromatic DNA in the human genome14. The highly repetitive nature of heterochromatic DNA renders its sequencing difficult and it is unlikely to be well represented even in the final sequence, anticipated by April 2003. To date, the public consortium (IHGSC) report that 75% of the human genome sequence is in "finished" state. That is, a continuous sequence with gaps no larger than 150kb and an expected error rate of less than 1 in 10,000 nucleotides. The public consortium's effort also resulted in a high resolution physical map of the genome, constructed to facilitate accurate assembly of sequenced fragments16. However, the genome sequence itself represents a physical map of the highest possible resolution."

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