结构变异
基因组
生物
变化(天文学)
计算生物学
参考基因组
遗传学
全基因组测序
序列分析
集合(抽象数据类型)
计算机科学
基因
天体物理学
物理
程序设计语言
作者
Joel Martin,Wendy Schackwitz,Anna Lipzen
标识
DOI:10.1007/978-1-4939-7804-5_18
摘要
Whole-genome resequencing is a method for determining the differences between individuals and a reference genome. The experiments are performed by sequencing the individuals, aligning generated reads to a common reference and discovering variation within the data set by analysis of the alignment with software tools. When correlated with phenotypic information, sites of causative genomic variation may be putatively assigned.While the analysis is generally straightforward, there are many nuances, and we aim to help you understand how to generate an initial result, sift through it to identify likely candidates for a phenotype of interest, and flag false positive calls.
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