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  1. ...to distinguish it from the structural haplotype represented by the human reference (H1). We assessed the quality of the Chromosome 8p23.1 H2 haplotype by combining paired-end sequence data, read-depth analysis, and high-quality SMRT sequencing (Supplemental Section 1). Our initial clone-based assemblies...
  2. ...ventricular cardiomyopathy 7: Corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet 16: 367–373. Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, Ward DC. 1990. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247: 64...
  3. ...), the primary emphasis has shifted to the determination of the complete nucleotide sequence of the more than 3000 Mb comprising the 24 different human chromosomes ( Collins et al. 1998 ). The predominant approach to sequence acquisition is the shotgun subcloning of fingerprinted DNA clones, generally BAC, PAC...
  4. ...°C. This protocol resulted in an increased yield and, hence, signal intensity of the fingerprints, and also increased the pass rate from ∼80%–90% to >95% using cosmids, fosmids, P1 or bacterial artificial chromosome [PAC ( Iaonnou et al. 1994 ) or BAC ( Shizuya et al. 1992 ), respectively] clones...
  5. ...(BAC) clones have been used for physical mapping (Ashworth et al. 1995; Kim et al. 1996). Typically, 2- to 10-fold coverage of the or specific chromosomes has been sought. 2. In the past, sequence-ready maps were prepared by subcloning YACs or BACs, after partial restriction digestion, into cosmid...
  6. ..., in our experience, more stable than cosmids. Clones identified by STS screening can be characterized by fingerprinting and the fingerprints used to build contigs. Using these contigs, appropriate clones can then be selected for sequencing and to develop probes for chromosome walking. Clones recovered...
  7. ...of the human have made use of genomic libraries contained in several cloning vectors, including yeast artificial chromosomes (YACs), bacterial artificial chromosomes (BACs), human artificial episomal chromosomes (HAECs), P1 artificial chromosomes (PACs), P1 vectors (P1s), and cosmid clones ( Deaven et al. 1986...
  8. ...; Pennisi 2000 ; Marshall 2000 , 2001 ). Systematic restriction fragment analysis or “fingerprinting” and bacterial artificial chromosome (BAC)-end sequencing of all clones in the selected C57BL/6J (RPCI-23 and RPCI-24) BAC libraries will permit long-range association of sequence contigs. In the second...
  9. ...characterization of the RPCI-11 BAC library has not been reported, although its use in clone end sequencing, fingerprinting, and complete chromosome sequencing has been described ( Dunham et al. 1999 ; Mahairas et al. 1999 ; Hattori et al. 2000 ; Soderlund et al. 2000 ; Zhao et al. 2000 ; McPherson et al. 2001...
  10. ...), or other fosmid and cosmid libraries. Most of these gaps represent the type 3 gaps that are the most difficult to evaluate, because the sequence flanking these gaps is often not precisely aligned with the fingerprinted clones. The gaps represent ∼30 Mb or 1.0% of the human ( Grimwood and Schmutz 2003...
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