Reference-free SNP detection: dealing with the data deluge.
Reference-free SNP detection: dealing with the data deluge.
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DOI：
10.1186/1471-2164-15-s4-s10
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发表时间：
2014
期刊：
影响因子：
4.4
通讯作者：
MacLean D
中科院分区：
文献类型：
--
作者：
Leggett RM;MacLean D
无参考SNP检测，即直接从初级测序数据与其他初级测序数据的比较中识别样本之间的SNP，而不是通过预先组装的参考基因组来识别SNP，是一种新兴的、潜在的颠覆性技术，它开始打开变异识别的新前景，揭示了在非模式生物和元基因组学中的新应用。这些工具使用的现代、高效的数据结构使具有参考序列的研究人员能够以较低的计算存储和处理开销对更多的个体进行采样。在本文中，我们将讨论实现无参考SNP检测的技术和工具，以及它对模式生物和非模式生物、元基因组学、个人基因组学和医学中遗传变异研究的潜在影响。
Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an emergent and potentially disruptive technology that is beginning to open up new vistas in variant identification that reveals new applications in non-model organisms and metagenomics. The modern, effcient data structures these tools use enables researchers with a reference sequence to sample many more individuals with lower computing storage and processing overhead. In this article we will discuss the technologies and tools implementing reference-free SNP detection and the potential impact on studies of genetic variation in model and non-model organisms, metagenomics and personal genomics and medicine.