大麻的四个单倍型解决基因组组装和无参考的66单倍型全基因组图谱。

IF 7.2 2区 综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES
Brett Pike, Anders Gonçalves da Silva, Wilson Terán
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引用次数: 0

摘要

我们提出了4个单倍型解决,染色体规模的大麻二倍体组装,从ONT R9.4.1 reads通过基于Hi-C相位的新管道组装。这些组件虽然QV较低,但具有可与最近的HiFi组件相媲美的连续性和基因含量。与我们之前制作的三联体组装和从索尔克研究所大麻泛基因组项目中选择的56个单倍型一起,我们使用这些组装来创建无参考的泛基因组图。在6.48 Gb的总长度中,包含162.14 M个节点、228.27 M条边、14.87 M个snp和6.40 M个索引。通过优化Pangenome Graph Builder (PGGB)中的参数,我们避免了重复元素之间的许多虚假连接,减少了处理时间,并获得了一个可以明显概括植物染色体线性特性的数据结构。通过k-mer分析,我们证实需要更多的基因型来关闭大麻泛基因组,特别是原产区域可能仍然样本不足。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Four haplotype-resolved genome assemblies and a reference-free 66-haplotype pangenome graph for Cannabis sativa.

We present 4 haplotype-resolved, chromosome scale diploid assemblies of cannabis, assembled from ONT R9.4.1 reads via a novel pipeline based on Hi-C phasing. These assemblies, while low in QV, offer contiguity and genic content comparable to recent HiFi assemblies. Along with a trio-binned assembly previously produced by us and 56 haplotypes selected from the Salk Institute Cannabis Pangenome project, we use these assemblies to create a reference-free pangenome graph. Within a total length of 6.48 Gb, it contains 162.14 M nodes, 228.27 M edges, 14.87 M SNPs, and 6.40 M indels. By optimizing parameters within the Pangenome Graph Builder (PGGB), we avoid many spurious connections among repeat elements, reduce processing time, and arrive at a data structure that visibly recapitulates the linear nature of plant chromosomes. Via k-mer analysis, we corroborate that more genotypes are needed to close the cannabis pangenome, and that, in particular, the region of origin likely remains undersampled.

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来源期刊
Scientific Data
Scientific Data Social Sciences-Education
CiteScore
11.20
自引率
4.10%
发文量
689
审稿时长
16 weeks
期刊介绍: Scientific Data is an open-access journal focused on data, publishing descriptions of research datasets and articles on data sharing across natural sciences, medicine, engineering, and social sciences. Its goal is to enhance the sharing and reuse of scientific data, encourage broader data sharing, and acknowledge those who share their data. The journal primarily publishes Data Descriptors, which offer detailed descriptions of research datasets, including data collection methods and technical analyses validating data quality. These descriptors aim to facilitate data reuse rather than testing hypotheses or presenting new interpretations, methods, or in-depth analyses.
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