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人类基因组参考基因组的GIAB基因组分层资源.

Nathan Dwarshuis1, Divya Kalra2, Jennifer McDaniel1

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

Nature communications
|October 18, 2024
PubMed
概括

研究人员开发了基因组分层,以评估不同的人类基因组引用的测序工具性能. 这些BED文件突出了具有挑战性的地区,有助于选择适当的测序硬件和软件,以改进变种调用.

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