Aach J, Bulyk M L, Church G M, Comander J, Derti A, Shendure J
The Lipper Center for Computational Genetics, Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
Nature. 2001 Feb 15;409(6822):856-9. doi: 10.1038/35057055.
We are in the enviable position of having two distinct drafts of the human genome sequence. Although gaps, errors, redundancy and incomplete annotation mean that individually each falls short of the ideal, many of these problems can be assessed by comparison. Here we present some comparative analyses of these drafts. We look at a number of features of the sequences, including sequence gaps, continuity, consistency between the two sequences and patterns of DNA-binding protein motifs.
我们处于令人羡慕的位置，拥有两份不同的人类基因组序列草图。尽管存在缺口、错误、冗余和注释不完整等问题，意味着每一份草图都达不到理想状态，但其中许多问题可以通过比较来评估。在此，我们展示了对这些草图的一些比较分析。我们研究了序列的多个特征，包括序列缺口、连续性、两条序列之间的一致性以及DNA结合蛋白基序的模式。
