Reviews Book

Nature Encyclopaedia of the Human Genome

BMJ 2004; 328 doi: https://doi.org/10.1136/bmj.328.7432.172 (Published 15 January 2004) Cite this as: BMJ 2004;328:172
  1. Stephen Abbs, director DNA laboratory (Stephen.abbs@gstt.sthames.nhs.uk),
  2. Tracy Bussoli, genetic counsellor (Tracy.Bussoli@gstt.sthames.nhs.uk),
  3. Fred Kavalier, primary care geneticist (Fred.Kavalier@gstt.sthames.nhs.uk)
  1. Department of clinical genetics, Guy's Hospital, London
  2. Department of clinical genetics, Guy's Hospital, London
  3. Department of clinical genetics, Guy's Hospital, London

    Five volumes, 5000 pages, three million words, 15.2 kg, £675—if it's nothing else, the Nature Encyclopaedia of the Human Genome is a heavyweight publishing phenomenon. How is it possible to write a sensible review of an encyclopaedia? According to at least one dictionary definition an encyclopaedia “provides a general overview on a topic… a good place to start research.” To test the encyclopaedia against this definition the three of us each chose a single topic to look up in the encyclopaedia. Here is what we found.


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    Nature Publishing Group, £675/$950 (prepublication price), pp 5000 ISBN 0 333 80386 8http://www.ehgonline.net/

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    Steve Abbs, a clinical molecular geneticist, chose “DNA mutation nomenclature,” a subject that is dear to his heart

    Clinical molecular geneticists spend their working lives finding, naming, and investigating genetic mutations. When I looked up “mutation” in the contents I was reassured to discover that most of the topics I was interested in (and more) were covered by individual chapters, all written by international experts in their field. I looked in detail at the article “Mutation …

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