Bentley D R, Deloukas P, Dunham A, French L, Gregory S G, Humphray S J, Mungall A J, Ross M T, Carter N P, Dunham I, Scott C E, Ashcroft K J, Atkinson A L, Aubin K, Beare D M, Bethel G, Brady N, Brook J C, Burford D C, Burrill W D, Burrows C, Butler A P, Carder C, Catanese J J, Clee C M, Clegg S M, Cobley V, Coffey A J, Cole C G, Collins J E, Conquer J S, Cooper R A, Culley K M, Dawson E, Dearden F L, Durbin R M, de Jong P J, Dhami P D, Earthrowl M E, Edwards C A, Evans R S, Gillson C J, Ghori J, Green L, Gwilliam R, Halls K S, Hammond S, Harper G L, Heathcott R W, Holden J L, Holloway E, Hopkins B L, Howard P J, Howell G R, Huckle E J, Hughes J, Hunt P J, Hunt S E, Izmajlowicz M, Jones C A, Joseph S S, Laird G, Langford C F, Lehvaslaiho M H, Leversha M A, McCann O T, McDonald L M, McDowall J, Maslen G L, Mistry D, Moschonas N K, Neocleous V, Pearson D M, Phillips K J, Porter K M, Prathalingam S R, Ramsey Y H, Ranby S A, Rice C M, Rogers J, Rogers L J, Sarafidou T, Scott D J, Sharp G J, Shaw-Smith C J, Smink L J, Soderlund C, Sotheran E C, Steingruber H E, Sulston J E, Taylor A, Taylor R G, Thorpe A A, Tinsley E, Warry G L, Whittaker A, Whittaker P, Williams S H, Wilmer T E, Wooster R, Wright C L
The Sanger Centre, Hinxton, Cambridge, UK.
Nature. 2001 Feb 15;409(6822):942-3. doi: 10.1038/35057165.
We constructed maps for eight chromosomes (1, 6, 9, 10, 13, 20, X and (previously) 22), representing one-third of the genome, by building landmark maps, isolating bacterial clones and assembling contigs. By this approach, we could establish the long-range organization of the maps early in the project, and all contig extension, gap closure and problem-solving was simplified by containment within local regions. The maps currently represent more than 94% of the euchromatic (gene-containing) regions of these chromosomes in 176 contigs, and contain 96% of the chromosome-specific markers in the human gene map. By measuring the remaining gaps, we can assess chromosome length and coverage in sequenced clones.
我们通过构建地标图谱、分离细菌克隆和组装重叠群，为代表基因组三分之一的八条染色体（1、6、9、10、13、20、X以及之前的22号染色体）构建了图谱。通过这种方法，我们能够在项目早期就确定图谱的长程组织，并且由于局限在局部区域内，所有重叠群的延伸、缺口填补和问题解决都得到了简化。目前这些图谱在176个重叠群中代表了这些染色体常染色质（含基因）区域的94%以上，并且包含人类基因图谱中96%的染色体特异性标记。通过测量剩余的缺口，我们可以评估测序克隆中的染色体长度和覆盖度。
