MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, UK.
Mamm Genome. 2012 Oct;23(9-10):499-513. doi: 10.1007/s00335-012-9424-0. Epub 2012 Sep 19.
Phenotype-driven approaches in mice are powerful strategies for the discovery of genes and gene functions and for unravelling complex biological mechanisms. Traditional methods for mutation discovery are reliable and robust, but they can also be laborious and time consuming. Recently, high-throughput sequencing (HTS) technologies have revolutionised the process of forward genetics in mice by paving the way to rapid mutation discovery. However, successful application of HTS for mutation discovery relies heavily on the sequencing approach employed and strategies for data analysis. Here we review current HTS applications and resources for mutation discovery and provide an overview of the practical considerations for HTS implementation and data analysis.
表型驱动的方法在小鼠中是发现基因和基因功能以及揭示复杂生物学机制的强大策略。传统的突变发现方法可靠且稳健,但也可能繁琐且耗时。最近,高通量测序(HTS)技术通过为快速突变发现铺平道路,彻底改变了小鼠正向遗传学的进程。然而,HTS 成功应用于突变发现在很大程度上依赖于所采用的测序方法和数据分析策略。在这里,我们回顾了当前用于突变发现的 HTS 应用和资源,并提供了 HTS 实施和数据分析的实用考虑因素概述。