One fly-one genome: chromosome-scale genome assembly of a single outbred Drosophila melanogaster
One fly-one genome: chromosome-scale genome assembly of a single outbred Drosophila melanogaster
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DOI：
10.1093/nar/gkaa450
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发表时间：
2020-07-27
影响因子：
14.9
通讯作者：
Corbett-Detig, Russell B.
中科院分区：
文献类型：
--
作者：
Adams, Matthew;McBroome, Jakob;Corbett-Detig, Russell B.
高质量的基因组组装是研究生物体的重要第一步。技术的最新进展使得高质量染色体规模组装的产生可行且成本低。然而，组装项目所需的输入DNA量可能是小型生物或珍贵样品的限制因素。在这里，我们证明了使用低输入样本的混合方法，一个单一的远交果蝇的染色体规模大会的可行性。我们的方法结合了Illumina鸟枪文库，Oxford纳米孔长读段和染色体构象捕获用于远程支架。该单蝇基因组组装体具有26 Mb的N50，其长度涵盖整个染色体臂，包含95%的预期单拷贝直系同源物，以及该个体的沃尔巴克氏体内共生体的几乎完整的组装体。本文所述的方法能够准确和完整地组装来自野外收集的小型生物体以及珍贵的临床样品的基因组。
A high quality genome assembly is a vital first step for the study of an organism. Recent advances in technology have made the creation of high quality chromosome scale assemblies feasible and low cost. However, the amount of input DNA needed for an assembly project can be a limiting factor for small organisms or precious samples. Here we demonstrate the feasibility of creating a chromosome scale assembly using a hybrid method for a low input sample, a single outbred Drosophila melanogaster. Our approach combines an Illumina shotgun library, Oxford nanopore long reads, and chromosome conformation capture for long range scaffolding. This single fly genome assembly has a N50 of 26 Mb, a length that encompasses entire chromosome arms, contains 95% of expected single copy orthologs, and a nearly complete assembly of this individual's Wolbachia endosymbiont. The methods described here enable the accurate and complete assembly of genomes from small, field collected organisms as well as precious clinical samples.