Easymap: A User-Friendly Software Package for Rapid Mapping-by-Sequencing of Point Mutations and Large Insertions

Area of Science:

• Genetics
• Bioinformatics
• Genomics

Background:

• Mapping-by-sequencing integrates next-generation sequencing (NGS) with linkage analysis for rapid mutation identification.
• Existing NGS data analysis tools often require advanced bioinformatic skills, complex software modifications, or commercial licenses.

Purpose of the Study:

• To develop an accessible, open-source program simplifying the process of identifying causal mutations from NGS data.
• To provide a user-friendly tool for researchers with varying levels of bioinformatics expertise.

Main Methods:

• Development of Easymap, an open-source program with a graphical user interface.
• Implementation of workflows for bulked segregant analysis (point mutations) and tagged-sequence mapping (large insertions).
• Validation of mapping analyses using experimental and simulated datasets across diverse model species.

Main Results:

• Easymap successfully simplifies NGS data analysis from raw reads to candidate mutations.
• The program supports various mapping strategies, including DNA-seq, RNA-seq, transposons, and T-DNAs.
• Easymap provides detailed reports with images and data for result assessment, validated across species.

Conclusions:

• Easymap democratizes mutation mapping by providing an intuitive and powerful tool for genetic research.
• The open-source nature and user-friendly design of Easymap facilitate broader adoption in the scientific community.
• Easymap streamlines the identification of causal mutations, accelerating genetic discovery in model organisms.