Pratas Diogo, Silva Raquel M, Pinho Armando J, Ferreira Paulo J S G
IEETA/DETI, University of Aveiro, Portugal.
Sci Rep. 2015 May 18;5:10203. doi: 10.1038/srep10203.
Species evolution is indirectly registered in their genomic structure. The emergence and advances in sequencing technology provided a way to access genome information, namely to identify and study evolutionary macro-events, as well as chromosome alterations for clinical purposes. This paper describes a completely alignment-free computational method, based on a blind unsupervised approach, to detect large-scale and small-scale genomic rearrangements between pairs of DNA sequences. To illustrate the power and usefulness of the method we give complete chromosomal information maps for the pairs human-chimpanzee and human-orangutan. The tool by means of which these results were obtained has been made publicly available and is described in detail.
物种进化间接记录在其基因组结构中。测序技术的出现和发展提供了一种获取基因组信息的方法,即识别和研究进化宏观事件以及用于临床目的的染色体改变。本文描述了一种基于盲目无监督方法的完全无比对计算方法,用于检测DNA序列对之间的大规模和小规模基因组重排。为了说明该方法的强大功能和实用性,我们给出了人类-黑猩猩和人类-猩猩这两对的完整染色体信息图谱。获得这些结果所使用的工具已公开可用并进行了详细描述。