High throughput sequencing approaches to mutation discovery in the mouse

作者：Simon Michelle M^*; Mallon Ann Marie; Howell Gareth R; Reinholdt Laura G

来源：Mammalian Genome, 2012, 23(9-10): 499-513.

DOI：10.1007/s00335-012-9424-0

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.

• 出版日期2012-10