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Updated: Jun 14, 2025

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拼接VarDB:一个实验验证的人类拼接变体的全面数据库

Patricia J Sullivan1, Julian M W Quinn2, Weilin Wu2

  • 1Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW, Australia; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia; UNSW Centre for Childhood Cancer Research, UNSW Sydney, Sydney, NSW, Australia.

American journal of human genetics
|September 3, 2024
PubMed
概括

拼接VarDB是一个新的数据库,它从数千个基因中整合了超过50,000个拼接变体. 该资源有助于解释影响基因拼接的遗传变异,提高诊断准确度.

关键词:
准则拼接地点 准则拼接地点基因组学就是基因组学.这是一种致病性病原体.拼接区域 拼接区域拼接地点 拼接地点拼接 拼接 拼接 拼接拼接的监管要素是拼接.翻译学 翻译学 翻译学 翻译学变体解释变体解释进行全基因组测序.

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