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Genome puzzle master (GPM): an integrated pipeline for building and editing pseudomolecules from fragmented sequences

机译:基因组拼图大师(GPM):用于从片段序列构建和编辑假分子的集成管道

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Motivation: Next generation sequencing technologies have revolutionized our ability to rapidly and affordably generate vast quantities of sequence data. Once generated, raw sequences are assembled into contigs or scaffolds. However, these assemblies are mostly fragmented and inaccurate at the whole genome scale, largely due to the inability to integrate additional informative datasets (e.g. physical, optical and genetic maps). To address this problem, we developed a semi-automated software tool-Genome Puzzle Master (GPM)-that enables the integration of additional genomic signposts to edit and build 'new-gen-assemblies' that result in high-quality 'annotation-ready' pseudomolecules.
机译:动机:下一代测序技术彻底改变了我们快速而经济地生成大量序列数据的能力。生成后,原始序列将组装成重叠群或支架。但是,这些程序集在整个基因组范围内大多是碎片化的,而且不准确,这在很大程度上是由于无法整合其他信息性数据集(例如物理图,光学图和遗传图)。为了解决这个问题,我们开发了半自动化的软件工具-Genome Puzzle Master(GPM),该工具可以集成其他基因组路标来编辑和构建“新一代组件”,从而实现高质量的“注释就绪”假分子。

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