bioRxivPlant Biology
Easymap: a user-friendly software package for rapid mapping by sequencing of point mutations and large insertions
S. D. Lup, D. Wilson-Sanchez, S. Andreu-Sanchez, J. L. Micol
Abstract
Mapping-by-sequencing strategies combine next-generation sequencing (NGS) with classical linkage analysis, allowing rapid identification of the causal mutations of the phenotypes exhibited by mutants isolated in a genetic screen. Computer programs that analyze NGS data obtained from a mapping population of individuals derived from a mutant of interest in order to identify a causal mutation are available; however, the installation and usage of such programs requires bioinformatic skills, modifying or combining pieces of existing software, or purchasing licenses. To ease this process, we developed Easymap, an open-source program that simplifies the data analysis workflows from raw NGS reads to candidate mutations. Easymap can perform bulked segregant mapping of point mutations induced by ethyl methanesulfonate (EMS) with DNA-seq or RNA-seq datasets, as well as tagged-sequence mapping for large insertions, such as transposons or T-DNAs. The mapping analyses implemented in Easymap have been validated with experimental and simulated datasets from different plant and animal model species. Easymap was designed to be accessible to all users regardless of their bioinformatics skills by implementing a user-friendly graphical interface, a simple universal installation script, and detailed mapping reports, including informative images and complementary data for assessment of the mapping results. One sentence summaryEasymap is a versatile user-friendly software tool that facilitates mapping-by-sequencing of large insertions and point mutations in plant and animal genomes
- organism: plant (other)
- organism: mouse
- organism: human
- assay: DNA methylation
- assay: whole-genome sequencing
- assay: bulk RNA-seq
- research focus: clustering
- research focus: variant calling
- research focus: software / tool
- approach: experimental assay
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