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通过全基因组扩增重测序鉴定基因变异。 (你提供的原文“Identification of genetic variations in through resequencing by whole genome amplification.”中“in”后面缺少具体内容,我根据正常逻辑补充完整后进行了翻译)

Identification of genetic variations in through resequencing by whole genome amplification.

作者信息

Liu Yumei, Liu Hongxuan, Xie Yuefeng, Zhang Baohuan, Zou Xiaoqian, Ou Meiling, Ye Xiaohong, Han Yajing, Wu Jing, Chen Xiaojing, Dong Shirui, Zhu Kehui, Guo Congcong, Wang Penghua, Zhai Hening, Jing Chunxia, Yang Guang

机构信息

Department of Pathogen Biology, School of Medicine, Jinan University, Guangzhou, China.

Department of Epidemiology, School of Medicine, Jinan University, Guangzhou, China.

出版信息

J Int Med Res. 2019 Sep;47(9):4353-4364. doi: 10.1177/0300060519862069. Epub 2019 Jul 23.

Abstract

OBJECTIVE

To describe a new strategy for the whole genome resequencing of small parasite samples.

METHODS

Whole genome resequencing was based on a multiple displacement amplification (MDA) method. Sequencing reads were aligned with the reference genome, and a Bayesian model was used to calculate genotype probabilities. genome assembly was conducted, and single nucleotide polymorphisms (SNPs) were detected. Gene ontology (GO) analysis was used to determine connections between SNPs and genes.

RESULTS

In total, 64.12% of the parasite genome sequence was mapped to . fa, and 125,553 SNPs were detected. GO analysis revealed that most SNPs in coding regions were probably associated with common drug targets.

CONCLUSION

These results reveal the feasibility of a new strategy to detect genetic variations of small parasites. This study also provides a proof-of-principle for the molecular classification and epidemiological analysis of other parasites.

摘要

目的

描述一种用于小寄生虫样本全基因组重测序的新策略。

方法

全基因组重测序基于多重置换扩增(MDA)方法。测序读数与参考基因组进行比对,并使用贝叶斯模型计算基因型概率。进行基因组组装,并检测单核苷酸多态性(SNP)。使用基因本体(GO)分析来确定SNP与基因之间的联系。

结果

总共64.12%的寄生虫基因组序列被映射到.fa,并且检测到125,553个SNP。GO分析表明,编码区中的大多数SNP可能与常见药物靶点相关。

结论

这些结果揭示了一种检测小寄生虫遗传变异的新策略的可行性。本研究还为其他寄生虫的分子分类和流行病学分析提供了原理证明。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f387/6753555/ae5c3636cef8/10.1177_0300060519862069-fig1.jpg

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