Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Department of Genetics, Stanford University, Stanford, CA, USA.
Nat Rev Genet. 2018 Jun;19(6):329-346. doi: 10.1038/s41576-018-0003-4.
Several new genomics technologies have become available that offer long-read sequencing or long-range mapping with higher throughput and higher resolution analysis than ever before. These long-range technologies are rapidly advancing the field with improved reference genomes, more comprehensive variant identification and more complete views of transcriptomes and epigenomes. However, they also require new bioinformatics approaches to take full advantage of their unique characteristics while overcoming their complex errors and modalities. Here, we discuss several of the most important applications of the new technologies, focusing on both the currently available bioinformatics tools and opportunities for future research.
几种新的基因组学技术已经问世，它们提供了长读测序或长距离映射，具有比以往更高的通量和更高的分辨率分析。这些长距离技术正在通过改进参考基因组、更全面的变异识别以及转录组和表观基因组的更完整视图来快速推进该领域的发展。然而，它们还需要新的生物信息学方法来充分利用它们的独特特性，同时克服它们复杂的错误和模式。在这里，我们讨论了一些最重要的新技术应用，重点介绍了当前可用的生物信息学工具和未来研究的机会。
