First Complete genome of an individual
Researchers at Baylor College of Medicine have published the complete DNA sequence and analysis of an individual human diploid genome (and not just any individual — the person was Dr JD Watson, co-discoverer of the structure of DNA). The genome was analysed to 7.4 redundancy, facilitating a detailed comparison against the publicly available reference human genome. As the researchers point out, the association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has until now prevented the routine application of sequencing methods to deciphering complete individual human genomes. The extent to which this limitation has been overcome can be seen from the fact that the sequence was completed in only two months using massively parallel sequencing systems (454 Life Sciences) in picolitre-size reaction vessels at approximately one-hundredth of the cost of traditional capillary electrophoresis methods.
Dr Watson, after consultation with a genetic counsellor, chose to make the sequence data publicly available, omitting only the Apo E gene and the neighbouring sequence associated with Alzheimer’s Disease. The sequence data have since been available online to researchers worldwide at
www.jimwatsonsequence.cshl.edu.
Ref. Wheeler, DA et al. Nature 2008 Apr 17; 452(7189): 872-6.