利用人类捕获试剂对旧世界和新世界灵长类动物进行全外显子组测序的效率。
Efficiency of whole-exome sequencing in old world and new world primates using human capture reagents.
机构信息
Department of Internal Medicine, Section on Molecular Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA.
College of Life Sciences, Henan Agricultural University, Zhengzhou, China.
出版信息
J Med Primatol. 2021 Jun;50(3):176-181. doi: 10.1111/jmp.12524. Epub 2021 Apr 19.
BACKGROUND
Whole-exome sequencing (WES) can expedite research on genetic variation in non-human primate (NHP) models of human diseases. However, NHP-specific reagents for exome capture are not available. This study reports the use of human-specific capture reagents in WES for olive baboons, marmosets, and vervet monkeys.
METHODS
Exome capture was carried out using the SureSelect Human All Exon V6 panel from Agilent Technologies, followed by high-throughput sequencing. Capture of protein-coding genes and detection of single nucleotide variants were evaluated.
RESULTS
Exome capture and sequencing results showed that more than 97% of old world and 93% of new world monkey protein coding genes were detected. Single nucleotide variants were detected across the genomes and missense variants were found in genes associated with human diseases.
CONCLUSIONS
A cost-effective approach based on commercial, human-specific reagents can be used to perform WES for the discovery of genetic variants in these NHP species.
背景
全外显子组测序（WES）可以加速人类疾病非人类灵长类动物（NHP）模型中遗传变异的研究。然而，外显子组捕获的 NHP 特异性试剂尚不可用。本研究报告了在 WES 中使用人类特异性捕获试剂对橄榄狒狒、绒猴和绿猴进行的研究。
方法
使用 Agilent Technologies 的 SureSelect Human All Exon V6 面板进行外显子捕获，然后进行高通量测序。评估了蛋白编码基因的捕获和单核苷酸变异的检测。
结果
外显子捕获和测序结果表明，超过 97%的旧世界和 93%的新世界猴蛋白编码基因被检测到。在整个基因组中检测到单核苷酸变异，并且在与人类疾病相关的基因中发现了错义变异。
结论
基于商业的、人类特异性试剂的具有成本效益的方法可用于在这些 NHP 物种中进行 WES 以发现遗传变异。
Zotero 插件