Assessing the Quality of Finished Genomic Sequence
This extract was created in the absence of an abstract.
Excerpt
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...
