Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

Nils Homer; Stanley F Nelson

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Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

机译：通过使用SRMA对短读的下一代测序数据进行本地重新比对来改善变体发现

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A primary component of next-generation sequencing analysis is to align short reads to a reference genome, with each read aligned independently. However, reads that observe the same non-reference DNA sequence are highly correlated and can be used to better model the true variation in the target genome. A novel short-read micro re-aligner, SRMA, that leverages this correlation to better resolve a consensus of the underlying DNA sequence of the targeted genome is described here.

机译：下一代测序分析的主要组成部分是将短片段与参考基因组比对，每个片段独立地比对。但是，观察到相同非参考DNA序列的读段高度相关，可用于更好地模拟目标基因组中的真实变异。此处描述了一种新颖的短读微重组器，SRMA，利用这种相关性更好地解析了目标基因组的基础DNA序列的一致性。

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《Genome Biology》 |2010年第10期|共12页
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Nils Homer; Stanley F Nelson;
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中图分类分子生物学;
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专利

1. Improved variant discovery through localre-alignment of short-read next-generationsequencing data using SRMA [J] . Nils Homer, Stanley F Nelson Genome Biology . 2010,第10期

机译：通过使用SRMA对短读的下一代测序数据进行本地重新对齐来改进变体发现
2. Genotyping and De Novo Discovery of Allelic Variants at the Brassicaceae Self-Incompatibility Locus from Short-Read Sequencing Data [J] . Molecular biology and evolution . 2020,第4期

机译：短读测序数据的Brassicaceae自我不相解基因座的基因分型和DE Novo发现等位基因变异
3. A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling [J] . Schmidt Ryan J., Macleay Allison, Le Long Phi The Journal of molecular diagnostics: JMD . 2019,第3期

机译：变体呼叫后，来自下一代测序数据的删除插入变体的局部单倍型的生物信息工具
4. 21.1 A Fully Integrated Genetic Variant Discovery SoC for Next-Generation Sequencing [C] . Yi-Chung Wu, Yen-Lung Chen, Chung-Hsuan Yang, IEEE International Solid- State Circuits Conference . 2020

机译：21.1用于下一代测序的完全集成的遗传变异发现SoC
5. Statistical methods for genome variant calling and population genetic inference from next-generation sequencing data. [D] . Ma, Xin. 2011

机译：从下一代测序数据进行基因组变异调用和群体遗传推断的统计方法。
6. Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA [O] . Nils Homer, Stanley F Nelson 2010

机译：通过使用SRMA对短读的下一代测序数据进行本地重新比对来改善变体发现
7. Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA [O] . Nils Homer, Stanley F Nelson 2010

机译：通过使用SRMA对短读的下一代测序数据进行本地重新比对来改善变体发现

Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

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