Reinert Knut, Langmead Ben, Weese David, Evers Dirk J
Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany; email:
Annu Rev Genomics Hum Genet. 2015;16:133-51. doi: 10.1146/annurev-genom-090413-025358. Epub 2015 May 4.
High-throughput DNA sequencing has considerably changed the possibilities for conducting biomedical research by measuring billions of short DNA or RNA fragments. A central computational problem, and for many applications a first step, consists of determining where the fragments came from in the original genome. In this article, we review the main techniques for generating the fragments, the main applications, and the main algorithmic ideas for computing a solution to the read alignment problem. In addition, we describe pitfalls and difficulties connected to determining the correct positions of reads.
高通量DNA测序通过测量数十亿个短DNA或RNA片段,极大地改变了开展生物医学研究的可能性。一个核心计算问题,并且在许多应用中是第一步,在于确定这些片段在原始基因组中的来源位置。在本文中,我们回顾了生成片段的主要技术、主要应用以及用于计算读取比对问题解决方案的主要算法思想。此外,我们描述了与确定读取的正确位置相关的陷阱和困难。