In 1997 at the Second International Strategy Meeting on Human Genome Sequencing, the NHGRI reconfirmed the principles set out at the first meting in 1996 that sequence assemblies of 2 kb or larger should be released by participating laboratories within 24-hours of their generation (NHGRI, 2000). At this meeting, the scientists agreed on a set of quality control standards for human genome research (DOE, 2003). They agreed that: the nucleotide error rate should be 1 error in 10,000 bases or less for most sequences; assemblies should be verified by restriction digest using two or more restriction enzymes; the long term goal would be for no gaps in sequences; and closing gaps should be the responsibility of the participants. It was also agreed that data exchange would be performed to assess sequence accuracy, where raw sequence data would be exchanged among sequencing centers who would reassemble the data and identify discrepancies or ambiguities; all sequence reads would be archived in a retrievable form; and sequencing centers would define explicitly how they calculate error rates and costs. It was agreed that sequence annotation should be standardized and include: error estimation; enzymes used; details on how to assemble adjacent clones; gaps sized and the surrounding sequence oriented and ordered; methods used for sizing and reasons for not closing gaps disclosed; coding sequence and splice sites noted as identified experimentally or by computer; and for unfinished sequences, it should be stated how close they are to completion. Cardiogenomics. (2003). Quality control (QC)/Quality assurance (QA). Http://cardiogenomics.med.harvard.edu/component-detail?project_id=240 Rowan, L., Mahairas, G., & Hood, L. (1997). Sequencing the human genome. Science, 278(5338): 605-607. http://www.genome.gov/page.cfm?pageID=10000910 Fondon, J. W., Mele, G. M., Brezinschek, R. I., Cummings, D., Pande, A., Wren, J., O'Brien, K. M., Kupfer, K. C., Wei, M-H, |
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