超高效标记基因组序列中的串联重复序列。

IF 2.4 Q2 MATHEMATICAL & COMPUTATIONAL BIOLOGY Bioinformatics advances Pub Date : 2024-10-09 eCollection Date: 2024-01-01 DOI:10.1093/bioadv/vbae149
Daniel R Olson, Travis J Wheeler
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引用次数: 0

摘要

在长读数测序时代,基因组学研究人员现在可以获得精确的重复 DNA 序列(包括卫星序列),而由于短读数测序的限制,这些序列以前只能作为无法应用的片段进行观察。注释重复序列的工具现在比以往任何时候都更加重要,这样我们才能更好地理解新发现的重复序列,同时也能减少这些重复序列在生物信息软件中造成的错误。为此,我们推出了用于识别和注释局部重复序列的工具--ULTRA Locates Tandemly Repetitive Areas(ULTRA)的 1.0 版本。ULTRA 速度极快,可作为高效注释流水线的一部分使用,对包含大量突变的重复区域进行最先进的可靠覆盖,并为重复区域提供可解释的统计数据和标签:ULTRA 采用开源许可协议,可在 https://github.com/TravisWheelerLab/ULTRA 上下载。
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ULTRA-effective labeling of tandem repeats in genomic sequence.

In the age of long read sequencing, genomics researchers now have access to accurate repetitive DNA sequence (including satellites) that, due to the limitations of short read-sequencing, could previously be observed only as unmappable fragments. Tools that annotate repetitive sequence are now more important than ever, so that we can better understand newly uncovered repetitive sequences, and also so that we can mitigate errors in bioinformatic software caused by those repetitive sequences. To that end, we introduce the 1.0 release of our tool for identifying and annotating locally repetitive sequence, ULTRA Locates Tandemly Repetitive Areas (ULTRA). ULTRA is fast enough to use as part of an efficient annotation pipeline, produces state-of-the-art reliable coverage of repetitive regions containing many mutations, and provides interpretable statistics and labels for repetitive regions.

Availability and implementation: ULTRA is released under an open source license, and is available for download at https://github.com/TravisWheelerLab/ULTRA.

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