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一个中国四重奏的型解析组件和变体基准

Peng Jia^1,2,3, Lianhua Dong⁴, Xiaofei Yang^3,5,6

¹National Local Joint Engineering Research Center for Precision Surgery & Regenerative Medicine, Center for Mathematical Medical, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.

|December 4, 2023

概括

这项研究产生了来自中国家庭的高质量的基因组组合和变异数据,改善了对复杂遗传变异的人类基因组基准测试.

科学领域:

基因组学就是基因组学.
人类遗传学人类遗传学
生物信息学是一种生物信息学.

背景情况:

先进的测序技术有助于探索复杂的基因组区域.
调查具有挑战性的基因组领域需要全面的变异基因组比较数据集.

研究的目的:

为了生成高质量的哈普洛型解析基因组组件.
创建一个全面的变体基准测试数据集,使用中国四方.
检查在以前的基准指标中代表性不足的变体.

主要方法:

使用Illumina,BGI,PacBio和牛津纳米孔技术对一个中国四重奏 (两个单胞胎双胞胎女儿和父母) 进行测序.
长期分阶段读取到父亲和母亲的平分类型.
生成由哈普洛型解析的全基因组组件.

主要成果:

在完整性和连续性方面,通过单元型解决的组件超过了GRCh38.
列出了一个大型的人类变异景观:3,962,453个SNV,886,648个indel,9726个大删除,15600个大插入,40个反转,31个复杂的结构变异和68个de novo突变.
系统地检查重复区域中的复杂变异,结构变异和新突变.

结论:

为中国单胞胎双胞胎提供高质量的单胞胎类型解析组件和基准测试资源.
扩大了基因组覆盖范围,与现有基准相比,提供了对复杂变异类别的洞察力.

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