关键词: NGS测序数据分析, 生物信息学, 软件开发, 实验课教学, 教学改革, 医学遗传学

Abstract: With the drastically reduced costs in development of sequencing technology, together with the volume increase of shared sequencing data from laboratories worldwide, the demands for bioinformatics operation has been continuously exploding. Standardized protocols for discovery of mutations screening from DNA sequencing and differential analysis from RNA sequencing are gradually formed, therefore previously some professional analyses of NGS data can be performed in a user self-facilitated fashion with the evolved capacity of personal computers. To overwhelm the high bars of both software and hardware for NGS data processing, especially for medical students with inadequate mathematical and/or experiences to Linux operation systems, we developed a platform, called BIONEO (running under windows system with graphical interface), to support the laboratory training sessions for “High Through-Put Sequencing Data Analysis”. After being tested and operated for several rounds, we received satisfactory feedback and remarkable evaluation from both students and professional colleagues, with regards to the ease in operation and learning. Our novel system of BIONEO not only provided a solution for solving the common problems in bioinformatics practical training, and also allowed the trainees to explore with the data from research projects based on their learning. 

Key words: NGS data analysis, bioinformatics, software development, laboratory course, teaching reform, medical genetics