Mapping-by-sequencing

Forward genetic screens consist of random mutagenesis followed by the isolation of mutants exhibiting a phenotype of interest, and genetic analysis of these mutants to identify the mutations that cause their phenotypes. The preliminary identification and subsequent validation of these mutations are the most laborious and time-consuming steps of a forward genetic screen. Next-generation sequencing (NGS) of DNA has facilitated and revitalized such approaches, through the so-called mapping-by-sequencing methods, which combine NGS with classical linkage analysis.

We created a gene mapping facility in 2001, after the acquisition of a Sanger sequencer (Applied Biosystems PRISM 3130xl), which was replaced in 2018 by an Applied Biosystems Genetic Analyzer 3500. The facility has also been provided with two next-generation sequencers: Life Technologies - Applied Biosystems Ion Proton in 2012, and an Illumina NextSeq 550 in 2018.