Assessing the quality of finished genomic sequence.

This April, the Human Genome Project (HGP) announced the essential completion of the human genomesequence. In just a few years, from 2001 to 2003, the percentage of finished Homo sapiens sequence jumped from25% to 99%. This represented a dramatic increase in theproduction finishing capacity of genome centers worldwide and a shift from a primary focus on the productionof draft shotgun sequence (a streamlined productionpipeline) to the generation of complete and accurate finished genomic sequence (a difficult process involving decision-making and consecutive rounds of experiments).By 2001, the large genome centers had proven that theycould reduce the cost of the sequencing read through increased automation, conservation of reagents, and 24/7production level processes, but could they do the samething for producing finished sequence? Although it is asignificant challenge to maintain a production level ofmillions of shotgun sequencing reads per month, it is arguably more difficult to maintain a steady output of finished sequence that meets a defined accuracy standard.Perhaps surprising ourselves, we did it, overcoming thecomplexities of the finishing process and the allelic variation in the human genome to produce an essentiallycomplete human genome sequence...