Twin peaks the draft human genome sequence 英文参考文献.docVIP

/2001/2/3/comment/2003.1 Opinion Twin peaks: the draft human genome sequence Colin AM Semple, Kathryn L Evans and David J Porteous Address: Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, UK. Correspondence: Colin AM Semple. E-mail: Colin.Semple@ed.ac.uk Published: 1 March 2001 GenomeBiology 2001, 2(3):comment2003.1–2003.5 The electronic version of this article is the complete one and can be found online at /2001/2/3/comment/2003 ? BioMed Central Ltd (Print ISSN 1465-6906; Online ISSN 1465-6914) Abstract Once thought to be impossible or a waste of resources, the initial high-volume stages of sequencing the human genome have been completed. Extra, extra – read all about it unimagined areas of human ingenuity. Second, the sequence of the human genome is at present patently incomplete. Key questions will remain unanswerable until it is freely avail- able in full. The target date for a ?finished? genome sequence is still 2003, and the labour-intensive task of filling the remaining gaps in the draft have begun. Only the public effort is undertaking this ?finishing? process, and there is some concern that the large sequencing centers will lose focus on this relatively unrewarding work and will instead migrate to the greener pastures of functional genomics and sequencing other organisms [5]. The simultaneous publication in Nature [1] and Science [2] magazines of the draft human sequence, generated, respec- tively, by the long-established and publicly funded Interna- tional Human Genome Sequencing Consortium (IHGSC) [1] and the commercially backed new kids on the block, Celera Genomics [2,3], is a landmark worth celebrating, savoring and slowly digesting. The decoding of more than 90% of the human genome is the culmination of a massive scientific e