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在人类基因组上使用纳米孔测序检测和注释可转移元素插入和删除

Javier Cuenca-Guardiola1, Belén de la Morena-Barrio2, Esther Navarro-Manzano2

  • 1Departamento de Informática y Sistemas, Universidad de Murcia, CEIR Campus Mare Nostrum, IMIB-Pascual Parrilla, Facultad de Informática, Campus de Espinardo, Murcia 30100, Spain.

iScience
|November 13, 2023
PubMed
概括

可移植元素 (TE) 可以改变人类基因组,可能导致疾病. 这项研究在患者中发现了许多新的TE变体,表明与神经功能和自闭症有关.

关键词:
基因组学就是基因组学.人类遗传学 人类遗传学生物科学中的方法论.序列分析是指进行序列分析.

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