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 genome1, approximately
6 gigabases, has prevented the routine application of sequencing
methods to deciphering complete individual human genomes.
To realize the full potential of genomics for human health, this
limitation must be overcome.