面向本科生的基于UCSC Genome Browser的基因组数据探索实验教学设计

Undergraduate-Oriented Experimental Teaching Design for Genome Data Exploration Based on the UCSC Genome Browser

  • 摘要: 随着生物信息学技术的快速发展,海量基因组数据的存储、管理与分析已成为该领域研究的核心挑战之一。数据库操作作为生物信息学分析的关键技术手段,在基因组数据挖掘和功能注释中发挥着不可替代的作用。熟练掌握基因组数据库的操作技术不仅能够有效提升生物信息学分析的效率,而且为深入理解基因组结构与功能提供了重要的技术支撑。本文以UCSC Genome Browser数据库中的hg38人类基因组参考序列为研究对象,设计了关于基因组数据库的常用操作技术及其在生物信息学分析中应用的教学实验。本研究基于基因组浏览器界面,实现了目标基因的基本信息检索与功能注释;通过变异数据库查询,获取了目标基因在UniProt中的变异信息;利用序列提取工具,完成了特定基因组区域的序列获取;通过MySQL数据库接口,实现了基因组级别的数据查询与批量处理。研究结果表明,第19号染色体的转录本结构密度最高,明显高于其他染色体。本研究为生物信息学实验教学提供了可操作的案例参考,对培养学生的实践能力具有重要意义。

     

    Abstract: With the rapid advancement of bioinformatics technology, the storage, management, and analysis of large-scale genomic data have become core challenges in this field. Database operations, as a key technical approach in bioinformatics analysis, play an irreplaceable role in genomic data mining and functional annotation. Mastering genomic database operation techniques enhances the efficiency of bioinformatics analysis; it also provides essential technical support for deeper insights into genome structure and function. This study focuses on the hg38 human genome reference sequence in the UCSC Genome Browser. It designs a teaching experiment on commonly used genomic database operations and their applications in bioinformatics analysis. Based on the genome browser interface, we implemented basic gene information retrieval and functional annotation. Through variant database queries, we obtained variant information of target genes included in UniProt. Utilizing sequence extraction tools, we retrieved sequences from specific genomic regions. Additionally, by leveraging the MySQL database interface, we performed large-scale genomic data queries and batch processing. The research results show that Chromosome 19 has the highest transcript structure density, much higher than that of other chromosomes. This study provides an operable case reference for bioinformatics laboratory teaching and holds significant practical value in fostering students’ hands-on skills.

     

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