全基因组测序的突变图谱与鉴定。
Mutation Mapping and Identification by Whole-Genome Sequencing.
机构信息
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
出版信息
Methods Mol Biol. 2022;2468:257-269. doi: 10.1007/978-1-0716-2181-3_13.
Abstract
Geneticists approach biology with a simple question: which genes are required for the pathway or process of interest? Classical genetic screens (aka forward genetics) in model organisms such as Caenorhabditis elegans have been the method of choice for answering that question. Next-generation sequencing provides the means to generate a comprehensive list of sequence variants, including the mutation of interest. Herein is described a workflow for sample preparation and data analysis to allow the simultaneous mapping and identification of candidate mutations by whole-genome sequencing in Caenorhabditis elegans.
摘要
遗传学家带着一个简单的问题来研究生物学
对于感兴趣的途径或过程，需要哪些基因？经典的遗传筛选（又名正向遗传学）在秀丽隐杆线虫等模式生物中是回答这个问题的首选方法。下一代测序提供了生成序列变异的综合列表的手段，包括感兴趣的突变。本文描述了一种工作流程，用于样品制备和数据分析，以允许在秀丽隐杆线虫中通过全基因组测序同时映射和鉴定候选突变。
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