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从一个完整的X和Y染色体组合的小变异基准

Justin Wagner1, Nathan D Olson1, Jennifer McDaniel1

  • 1Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, USA.

Nature communications
|January 8, 2025
PubMed
概括

我们开发了一套基准,用于评估男性性染色体 (X和Y) 上的变异检测. 该工具有助于在复杂的基因组区域中识别短读和长读测序技术中的错误.

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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
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