Human Genome Project: Importance in Clinical Genetics


The Human Genome Project is impacting upon clinical genetics by defining the complexity of genes in humans, by developing technology at ‘genome‐wide’ scale, by underpinning the search for the genetic origins of complex disorders and by driving the development of new sequencing technologies of great power. Here we review these developments and argue that the greatest benefit of the Human Genome Project is yet to come.

Keywords: genome; common genetic disorders; personal genome; genome scale; DNA arrays; predictive genetic information

Figure 1.

Copy number variations (CNVs) in human DNA. Red bars to left of chromosome indicate frequency and blue or green bars to right indicate size (see key above). Reprinted by permission from Macmillan Publisers Ltd, Redon et al..

Figure 2.

SNPs and haplotypes in the human genome. Displays are for chromosomes 18‐Y only. See original figure for legend and data from remainder of genome. LD is linkage disequilibrium and is a measure of haplotype ‘lengths’. From Hinds DA et al. Whole‐genome patterns of common DNA variation in three human populations. Science 307: 1072–1079. Reproduced with permission from AAAS. Readers may view, browse and/or download material for temporary copying purposes only, provided these uses are for noncommercial personal purposes. Except as provided by the law, this material may not be further reproduced, distributed, transmitted, modified, adapted, performed, displayed, published, or sold in whole or in part, without prior written permission from the publisher.



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Little, Peter FR, and Williams, Rohan BH(Apr 2008) Human Genome Project: Importance in Clinical Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005485]