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Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data

机译:使用长读和Hi-C数据精确组装橄榄狒狒(Papio Anubis)基因组的组装

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Abstract Background Baboons are a widely used nonhuman primate model for biomedical, evolutionary, and basic genetics research. Despite this importance, the genomic resources for baboons are limited. In particular, the current baboon reference genome Panu_3.0 is a highly fragmented, reference-guided (i.e., not fully de novo) assembly, and its poor quality inhibits our ability to conduct downstream genomic analyses. Findings Here we present a de novo genome assembly of the olive baboon (Papio anubis) that uses data from several recently developed single-molecule technologies. Our assembly, Panubis1.0, has an N50 contig size of ~1.46 Mb (as opposed to 139 kb for Panu_3.0) and has single scaffolds that span each of the 20 autosomes and the X chromosome. Conclusions We highlight multiple lines of evidence (including Bionano Genomics data, pedigree linkage information, and linkage disequilibrium data) suggesting that there are several large assembly errors in Panu_3.0, which have been corrected in Panubis1.0.
机译:摘要背景狒狒是生物医学,进化和基本遗传研究的广泛使用的非人类气象模型。尽管重要,但狒狒的基因组资源有限。特别地,目前的狒狒参考基因组Panu_3.0是一种高度碎片化的,基准引导(即,不是完全de Novo)组件,其质量差抑制了我们进行下游基因组分析的能力。这里的调查结果我们展示了使用来自几个最近开发的单分子技术的数据的橄榄狒狒(Papio Anubis)的De Novo Genome组装。我们的组装PANUBIS1.0具有〜1.46 MB的N50 CONTIG大小(与PANU_3.0的139 KB相反),并且具有跨越20个纯弹性和X染色体中的每一个的单个支架。结论我们突出了多条证据(包括Bionano Genomics数据,血统联系信息和联动不平衡数据),表明Panu_3.0中存在几个大的装配误差,该误差已经在Panubis1.0中校正。

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