Genome Sequence Analysis


The human genome has an estimated 40 000–100 000 genes dispersed throughout 3.5 billion nucleotides of sequence. DNA sequences are inherently complex and a number of computational tools are required to analyse the genomic sequences of eukaryotic, bacterial and model organisms.

Keywords: human genome; expressed sequence tags; DNA sequencing; coding regions; mRNA; cDNA; exons; introns; basic local alignment search tool (BLAST); Gene Recognition and Analysis Internet Link (GRAIL); bioinformatics

Further Reading

Adams MD, Fields C and Venter C (eds) (1994) Automated DNA Sequencing and Analysis. San Diego, CA: Academic Press.

Altschul SF, Gish W, Miller W, Myers EW and Lipman D (1990) Basic local alignment search tool. Journal of Molecular Biology 215: 403–410.

Bishop MJ (ed.) (1998) Guide to Human Genome Computing. San Diego, CA: Academic Press.

Burch PE (1999) Molecular Biology Computation Resource. Houston, TX: Baylor College of Medicine. []

Burge C (2000) GENSCAN. Cambridge, MA: Massachusetts Institute of Technology. [] [Burge C and Karlin S (1997) Prediction of complete gene structures in human genomic DNA. Journal of Molecular Biology 268: 78–94.]

Cook JL (1999) Internet biomolecular resources. Analytical Biochemistry 268: 165–172.

Deininger PL and Batzer MA (1993) Evolution of retroposons. Evolutionary Biology 27: 157–196.

Deininger PL and Batzer MA (1999) Alu repeats and human disease. Molecular Genetics and Metabolism 67: 183–193.

Gene Regulation (2000) TRANSFAC. Braunschweig, Germany: BIOBASE GmbH. [http://www.gene‐]

GRAIL (1996) Gene Recognition and Assembly Internet Link Version 1.3. [‐1.3/]

Human Genome Sequencing Center (2000) Search Launcher. Houston, TX: Baylor College of Medicine. []

Jurka J and Batzer MA (1996) Human repetitive elements. In: Meyers RA (ed.) Encyclopedia of Molecular Biology and Medicine, vol. 3, pp. 240–246. Weinheim, Germany: VCH Publishers.

Lewin B (1997) Genes VI. New York: Oxford University Press.

NCBI (2000) National Center for Biotechnology Information. []

TIGR (2000) TIGR Databases. Rockville, MD: The Institute for Genomic Research. [http//]

Uberbacher EC and Mural RJ (1991) Locating protein‐coding regions in human DNA by multiple neural sensor neural network approach. Proceedings of the National Academy of Sciences of the USA 88: 11261–11265.

University of Washington Genome Center (1999) Repeat Masker. Seattle, WA: University of Washington. []

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How to Cite close
DeAngelis, Margaret M, and Batzer, Mark A(Apr 2001) Genome Sequence Analysis. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0003028]