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结合全长基因测定和SpliceAI来解释所有可能的SPINK1编码变体的拼接影响

Hao Wu1,2, Jin-Huan Lin1,2, Xin-Ying Tang2,3

  • 1Department of Gastroenterology, Changhai Hospital, Naval Medical University, 168 Changhai Road, Shanghai, 200433, China.

Human genomics
|February 27, 2024
PubMed
概括

这项研究表明,SPINK1基因中很少有单核酸变异会影响拼接. 将全长基因拼接试验与SpliceAI集成,为精准医学提供了准确的潜在变异分析.

关键词:
这就是SPINK1基因.慢性胰腺炎 慢性胰腺炎全长基因拼接试验 (FLGSA) 是一种全长基因拼接试验.在mRNA前拼接.精准医学在遗传学中的应用.单核酸变体 (SNVs) 是一种单核酸变体.拼接地点 拼接地点拼接AIAI是什么意思拼接预测算法 拼接预测算法变体解释的变体解释

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