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SAGPEK:快速灵活的方法来识别桑格测序数据的基因型

Jinpeng Wang^1,2, Shuo Sun^1,2, Yaran Zhang^1,2

¹Key Laboratory of Livestock and Poultry Multi-omics of MARA, Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan, 250100, People's Republic of China.

BMC bioinformatics

|October 14, 2025

概括

SAGPEK自动化了桑格测序数据的基因类型,大大减少了与手动分析相关的时间和错误. 这个工具有效地处理成千上万的文件,用于遗传疾病诊断和畜牧养殖的应用.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
分子生物学分子生物学

背景情况:

桑格测序对于人类遗传疾病诊断和畜牧养殖至关重要.
桑格测序数据分析的现有软件缺乏创新,导致耗时的手动基因型确定.
手动分析来自众多样本的遗传数据容易出现错误.

研究的目的:

开发一个自动化工具来分析ABI格式的桑格序列文件.
为了在众多样本中实现多个位点的高通量基因型定型.
为了提高桑格测序数据分析的效率和准确性.

主要方法:

开发了SAGPEK,这是一个软件工具,用于从桑格测序文件中自动识别基因型.
SAGPEK提取信号强度,执行基调用,并确定基因型状态 (同卵性/异卵性).
该工具使用基序列绘制目标位点,并报告基因型和氨基酸变化.

主要成果:

SAGPEK自动识别目标位点中的基因型,从数百到数千个桑格测序文件中.
该软件生成初级序列,并记录异构位的二次基.
它成功地绘制了位点,报告了基因型,并注释了氨基酸变化.

结论:

SAGPEK提供了一种高效,灵活和用户友好的解决方案,用于分析ABI格式的Sanger测序数据.
该工具将批量基因类型,可定制序列和突变报告集成到一个开源包中.
SAGPEK适用于基因疾病查,药物耐药性检测和功能突变识别.

关键词:

动物分子育种动物分子育种药物耐药性突变的发生.分子诊断学分子诊断学桑格尔测序是什么意思

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