Short read sequencing technologies, such as genotyping-by-sequencing (GBS), have been utilized in genetic mapping, marker development, and population genomic studies. High-throughput and multiplexing capability coupled with low cost make GBS an appropriate tool for molecular research. Here, we present the application of GBS to characterize wheat aneuploid stocks and detect chromosomal aberrations including aneuploidy and chromosomal deletions. These aneuploids are an important resource that have been used in wheat genetics and genomics studies to localize genes, determine physical positions, and develop chromosome bin maps. Using GBS, we mapped sequence reads and quantified read coverage across chromosome bins. Using this approach, we confirmed known deletions and aneuploid stocks. In addition, we were also able to fully characterize these stocks and to identify several novel deletions and aneuploids. With this knowledge and a quick detection tool at our disposal, we can easily isolate these deletions and aneuploids into distinct lines. We envision this tool to replace the intensive cytogenetics techniques, such as C-banding, and fluorescent- and genomic-in situ hybridization to accurately detect chromosome dosage and segmental deletions in wheat genetic stocks as well as other crop species.

中文翻译：

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使用基因分型测序在计算机上检测小麦中的非整倍体和染色体缺失

短读长测序技术，例如基因分型测序 (GBS)，已被用于遗传作图、标记开发和群体基因组研究。高通量和多路复用能力以及低成本使 GBS 成为分子研究的合适工具。在这里，我们介绍了 GBS 在表征小麦非整倍体种群和检测染色体畸变（包括非整倍体和染色体缺失）中的应用。这些非整倍体是小麦遗传学和基因组学研究中用于定位基因、确定物理位置和开发染色体箱图的重要资源。使用 GBS，我们映射了序列读取并量化了染色体箱的读取覆盖率。使用这种方法，我们确认了已知的缺失和非整倍体库存。此外，我们还能够充分描述这些种群的特征，并鉴定出几种新的缺失和非整倍体。有了这些知识和我们可以使用的快速检测工具，我们可以轻松地将这些缺失和非整倍体分离成不同的系。我们设想该工具将取代密集的细胞遗传学技术，例如 C 带、荧光和基因组原位杂交，以准确检测小麦遗传种群以及其他作物物种中的染色体剂量和节段缺失。