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对患有先天性疾病和染色体转位的患者进行光学基因组测绘
Yasuko Ogiwara1,2,3, Atsushi Hattori1,4, Kento Ikegawa2
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Cytogenetic and genome research
|May 26, 2023
概括
光学基因组映射 (OGM) 在患有性发育障碍 (DSD) 的患者中有效检测出染色体结构变异,包括9;11转位. 虽然转基因生物显示出前景,但数据分析方法需要改进以提高准确性.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 细胞遗传学 细胞遗传学
背景情况:
- 性发育障碍 (DSD) 是一种复杂的遗传疾病.
- 准确的型定型对于诊断DSD至关重要.
- 光学基因组映射 (OGM) 是一种新兴的细胞遗传技术.
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