Towards the detection of copy number variation from single sperm sequencing in cattle

文献类型： 外文期刊

第一作者： Yang, Liu

作者： Yang, Liu;Gao, Yahui;Boschiero, Clarissa;Neupane, Mahesh;Li, Cong-Jun;Rosen, Benjamin D.;Van Tassell, Curtis P.;Liu, George E.;Yang, Liu;Li, Li;Zhang, Hongping;Gao, Yahui;Ma, Li;Oswalt, Adam;Sattler, Charles G.;Fang, Lingzhao;Seroussi, Eyal;Xu, Lingyang;Yang, Lv;Zhou, Yang;Yang, Lv;Zhou, Yang

作者机构：

关键词： Cattle; Single sperm sequencing; Copy number variation

期刊名称：BMC GENOMICS （ 影响因子：4.547； 五年影响因子：4.931 ）

ISSN： 1471-2164

年卷期： 2022 年 23 卷 1 期

页码：

收录情况： SCI

摘要： Background Copy number variation (CNV) has been routinely studied using bulk-cell sequencing. However, CNV is not well studied on the single-cell level except for humans and a few model organisms. Results We sequenced 143 single sperms of two Holstein bulls, from which we predicted CNV events using 14 single sperms with deep sequencing. We then compared the CNV results derived from single sperms with the bulk-cell sequencing of one bull's family trio of diploid genomes. As a known CNV hotspot, segmental duplications were also predicted using the bovine ARS-UCD1.2 genome. Although the trio CNVs validated only some single sperm CNVs, they still showed a distal chromosomal distribution pattern and significant associations with segmental duplications and satellite repeats. Conclusion Our preliminary results pointed out future research directions and highlighted the importance of uniform whole genome amplification, deep sequence coverage, and dedicated software pipelines for CNV detection using single cell sequencing data.

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