使用PINDEL进行拆分读取插入缺失和结构变异检测
Split-Read Indel and Structural Variant Calling Using PINDEL.
作者信息
Ye Kai, Guo Li, Yang Xiaofei, Lamijer Eric-Wubbo, Raine Keiran, Ning Zemin
机构信息
MOE Key Lab for Intelligent Networks & Network Security, Xi'an Jiaotong University, Xi'an, China.
School of Electronics and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
出版信息
Methods Mol Biol. 2018;1833:95-105. doi: 10.1007/978-1-4939-8666-8_7.
Genetic variations are important evolutionary forces in all forms of life in nature. Accurate and efficient detection of various forms of genetic variants is crucial for understanding cell function, evolution and diseases in living organisms. In this chapter, we describe a detailed protocol that uses Pindel, a split-read algorithm, to discover indels and structural variants in a given genome, from Illumina short-read sequencing data produced from biological samples.
基因变异是自然界中所有生命形式重要的进化驱动力。准确且高效地检测各种形式的基因变异对于理解活生物体中的细胞功能、进化和疾病至关重要。在本章中，我们描述了一个详细的方案，该方案使用一种拆分读段算法Pindel，从生物样本产生的Illumina短读长测序数据中发现给定基因组中的插入缺失和结构变异。
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