Computational and Systems Biology, Genome Institute of Singapore, 138672 Singapore.
Nat Rev Genet. 2013 Mar;14(3):157-67. doi: 10.1038/nrg3367. Epub 2013 Jan 29.
Advances in sequencing technologies and increased access to sequencing services have led to renewed interest in sequence and genome assembly. Concurrently, new applications for sequencing have emerged, including gene expression analysis, discovery of genomic variants and metagenomics, and each of these has different needs and challenges in terms of assembly. We survey the theoretical foundations that underlie modern assembly and highlight the options and practical trade-offs that need to be considered, focusing on how individual features address the needs of specific applications. We also review key software and the interplay between experimental design and efficacy of assembly.
测序技术的进步和测序服务的普及，重新激发了人们对序列和基因组组装的兴趣。与此同时，测序也出现了新的应用，包括基因表达分析、基因组变异和宏基因组学的发现，而这些应用在组装方面都有不同的需求和挑战。我们调查了现代组装的理论基础，并强调了需要考虑的选项和实际权衡，重点关注单个特征如何满足特定应用的需求。我们还回顾了关键软件以及实验设计和组装功效之间的相互作用。
