关键词: 测序突变定位, Galaxy生信平台, 秀丽线虫, 教学改革

Abstract:

With advances in high-throughput sequencing technologies, whole-genome sequencing-based mutation mapping (mapping-by-sequencing) has become an important approach in modern genetic studies. However, in undergraduate life science courses, students have relatively few opportunities to engage with authentic sequencing data analysis workflows, and systematic teaching resources related to sequencing data analysis remain limited, particularly in conventional genetics teaching. Based on the Galaxy platform and the MiModD tool, this study reorganized the mutation mapping analysis workflow for instructional purposes and developed a case that can be applied in functional genomics and bioinformatics courses and integrated into genetics teaching. Using the published whole-genome sequencing data from the Caenorhabditis elegans mutant ot266 as a case, students are guided through the complete analytical workflow, including sequencing data quality control, read alignment, variant calling, allele frequency-based mapping, and candidate mutation identification. This teaching design provides a feasible teaching case for undergraduate bioinformatics or functional genomics education and can serve as a useful supplement to genetics teaching.

Key words: mapping-by-sequencing, Galaxy bioinformatics platform, Caenorhabditis elegans, teaching reform