Intended for healthcare professionals


Waiting for the working draft from the human genome project

BMJ 2000; 320 doi: (Published 06 May 2000) Cite this as: BMJ 2000;320:1223

A huge achievement, but not of immediate medical use

  1. Lon R Cardon, head of bioinformatics (,
  2. Hugh Watkins, professor (
  1. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN
  2. Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 9DU

    See also p 1257

    Hyped as biology's holy grail, the generation of a consensus sequence of the entire human genome is the flagship endeavour of the human genome project.1 2 About 1.7 billion base pairs have been sequenced so far in publicly funded projects, representing just over 50% of the genome and including the complete sequence of one full chromosome.3 By June 2000, another one billion base pairs are expected to be sequenced, completing 90% of the genome at what is called fivefold sequencing coverage (this being the number of times each part of the sequence is read in order to eliminate errors).5

    The aim of the project, 99% completion of the genome at tenfold coverage, seems on track for its deadline of 2003.4 By any standards, an effectively complete sequence will be a remarkable achievement.6 However, the hyperbole that surrounds it may reflect the scale of the undertaking rather than its immediate impact. A consensus sequence will make it possible to carry out a wide variety of studies involving gene content (even the number of genes remains contentious), comprehensively classify gene or …

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