Sabrina M Stone

Publications (2)72.56 Total impact

• Article: Analysis of the DNA sequence and duplication history of human chromosome 15.

  Michael C Zody, Manuel Garber, Ted Sharpe, Sarah K Young, Lee Rowen, Keith O'Neill, Charles A Whittaker, Michael Kamal, Jean L Chang, Christina A Cuomo, [......], Carrie Sougnez, Sabrina M Stone, Kerri Topham, Dascena Vincent, Shunguang Wang, Andrew R Zimmer, Bruce W Birren, Leroy Hood, Eric S Lander, Chad Nusbaum
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  ABSTRACT: Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.
  Nature 04/2006; 440(7084):671-5. · 36.28 Impact Factor
• Article: Analysis of the DNA sequence and duplication history of human chromosome 15

  Michael C. Zody, Manuel Garber, Ted Sharpe, Sarah K. Young, Lee Rowen, Keith O'Neill, Charles A. Whittaker, Michael Kamal, Jean L. Chang, Christina A. Cuomo, [......], Carrie Sougnez, Sabrina M. Stone, Kerri Topham, Dascena Vincent, Shunguang Wang, Andrew R. Zimmer, Bruce W. Birren, Leroy Hood, Eric S. Lander, Chad Nusbaum
  [show abstract] [hide abstract]
  ABSTRACT: Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication
  Nature 03/2006; 440(7084):671-675. · 36.28 Impact Factor