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一个Bos taurus测序方法的基准,用于组装,单元类型和变异调用
Camille Eché1, Carole Iampietro1, Clément Birbes2
1INRAE, US 1426, GeT-PlaGe, Genotoul, France Genomique, Université Fédérale de Toulouse, Castanet-Tolosan, France.
Scientific data
|June 8, 2023
概括
我们使用多种测序技术为夏洛莱公牛生成了高质量的,单质类型的参考基因组. 这种牛泛基因组贡献增强了对测序方法和变种检测的洞察力.
科学领域:
- 基因组学就是基因组学.
- 进行比较基因组学.
- 生物信息学是一种生物信息学.
背景情况:
- 瓶装基因组项目为创建高质量的参考基因组创造了先例.
- 全面的基因组数据对于推进牛养殖和遗传研究至关重要.
研究的目的:
- 创建一个高质量的,哈普罗类型的参考基因组,用于查罗莱斯牛品种.
- 评估和比较各种下一代测序技术用于基因组组装.
- 为开发一个全面的牛群基因组做出贡献.
主要方法:
- 使用Illumina,牛津纳米孔,太平洋生物科学 (HiFi和CLR),10X基因组学和Hi-C技术测序一个夏洛莱公牛及其父母.
- 使用三元组合和先进的生物信息管道生成哈普洛类型组件.
- 使用BUSCO分数进行质量评估并识别结构变异.
主要成果:
- 产生了两种类型基因组和一个共识组件,PacBio HiFi组件达到3.2 Gb.
- 达成共识的大会在保存的哺乳动物基因方面获得了95.8%的BUSCO完整度得分.
- 确定了超过35,000个结构变体,大于50个基对.
结论:
- 产生的参考基因组为查洛莱品种和更广泛的牛泛基因组计划提供了宝贵的资源.
- 这项研究表明,整合多种测序技术对于强大的基因组组装和变异发现的实用性.
- 这些数据集将有助于进一步研究SNP,indel和结构变异呼叫,以及牛中的de novo组装.
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