title: High throughput sequencing approaches to mutation discovery in the mouse.
abstract: 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.
authors.affiliation: MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, UK. m.simon@har.mrc.ac.uk
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Simon
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Mallon
authors.forename: Gareth R
authors.initials: GR
authors.lastname: Howell
authors.forename: Laura G
authors.initials: LG
authors.lastname: Reinholdt
mesh_terms: D000818:Animals; D057166:High-Throughput Screening Assays / Q000379:methods*; D051379:Mice / Q000235:genetics*; D009154:Mutation; D059467:Transcriptome