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Genetics

The Human Genome Project: the next decade

R M Gardiner

Department of Paediatrics, Rayne Institute, UCL Medical School, London, UK

Correspondence to:
Correspondence to:
Prof. R M Gardiner, Department of Paediatrics, Rayne Institute, UCL Medical School, 5 University Street, London WC1E 6JJ, UK;
mark.gardiner@ucl.ac.uk

Accepted 14 December 2001

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Towards a molecular understanding of common childhood diseases

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Keywords: genome; gene; chromosome

Abbreviations: HGP, human genome project; LD, linkage disequilibrium; SNP, single nucleotide polymorphism

A draft version of the complete human genome sequence was published early in 2001. This was the culmination of both public and privately funded efforts initiated a decade ago. The new landscape of the genome contained several surprises, including the relatively small number of genes, 30–40 000, required to make a human. Attention has now shifted towards annotating the genome by assigning function to all the genes, and characterising human genetic variation manifested as single nucleotide polymorphisms (SNPs). The latter should allow the genetic basis of common disorders with "complex" inheritance to be elucidated.

Ten years ago I wrote a review for this journal entitled "The human genome: a prospect for paediatrics".¹ In doing so a well known Goldwynism was ignored: "Never make predictions, especially about the future". From today's perspective the predictions in that article seem, however, rather cautious. The major goals of the Human Genome Project (HGP) . . . [Full text of this article]

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