In this paper, grouped weight matrix (GWM) method is proposed for splice site recognition.
提出识别剪切位点的分组权重矩阵方法。
Cryptic splice site — a DNA sequence similar to the consensus splice site but not normally used.
隐蔽剪接位点：与剪接位点序列相似，但一般不进行剪接的位置。
This splice site mutation was not found in the healthy members of this pedigree and in the controls.
家系中健康对照个体及无亲缘关系的正常对照均未发现该突变。
The experimental results show that the HMM identification system acquires higher rate in the splice site identification than popular machine learning techniques.
实验结果表明，该识别系统在用于剪接位点的识别中，较常用的机器学习方法，获得了更高识别率。
We found distinctive histone modification signatures that correlate with the splicing outcome in a set of human genes, and modulation of histone modifications causes splice site switching.
我们在一组人类基因中发现了与剪接结果相关的独特的组蛋白修饰特征，及组蛋白导致剪接位点转换的调节。
Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.
结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。
Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.
结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。
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