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

Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.
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DOI:
10.1093/gigascience/giaa134
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发表时间:
2020-12-07
期刊:
影响因子:
9.2
通讯作者:
Wall JD
Wall JD
中科院分区:
生物学2区
文献类型:
--
作者:
Batra SS;Levy-Sakin M;Robinson J;Guillory J;Durinck S;Vilgalys TP;Kwok PY;Cox LA;Seshagiri S;Song YS;Wall JD

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狒狒是一种广泛用于生物医学、进化和基础遗传学研究的非人类灵长类动物模型。尽管如此重要,狒狒的基因组资源仍然有限。特别是,当前的狒狒参考基因组Panu_3.0是高度碎片化的、参考引导(即不是完全从头)组装的,其质量差限制了我们进行下游基因组分析的能力。在这里,我们展示了橄榄狒狒(Papio anubis)的从头基因组组装,该组装使用了来自几种最近开发的单分子技术的数据。我们的组件 Panubis1.0 的 N50 重叠群大小约为 1.46 Mb(Panu_3.0 的大小为 139 kb),并且具有跨越 20 个常染色体和 X 染色体中每一个的单个支架。我们强调了多条证据(包括 Bionano Genomics 数据、谱系连锁信息和连锁不平衡数据),表明 Panu_3.0 中存在几个较大的组装错误,这些错误已在 Panubis1.0 中得到纠正。
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. 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. 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.
来自1,092个人基因组的遗传变异的综合图。
DOI: 10.1038/nature11632
发表时间: 2012-11-01
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影响因子: 64.8
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影响因子: 64.8
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