大多数编码蛋白质的人类基因

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的潜在边界位点。 3）（附加文件3：表S3）。 图3 图3 原始内含子变体数量的分布。+2和-2位点的变异数为14,744，少于+1和-1位点的变异数。在第二个位置之后，这些变异数量逐渐增加，然后在+9和-9位置达到最大数量136,241。然后数量逐渐平缓地下降，有起伏，在+149和-149位置之前下降斜率较小，之后下降斜率接近-1 全尺寸图像 原始内含子变体的 FP 分布 外显子侧翼内含子区域的原始变异的 FP 分布如下： +2 和 -2 位点的 FP 约为 16-18%，高于 +1 和 -1 位点的 FP，约为 10-12% %。然后FP慢慢地逐渐减小，直到+26和-26位置



时逐渐上升，大约为5%~6%。在+50和-50位置之后，它显国家电子邮件列表着增加。然后到+192和-192位置它趋于稳定，约为80-90%。FP的分布总体上符合“S”形曲线。然而，外显子侧翼内含子区域不同位置的平均深度分布与FP分布成反比，这表明WES数据中的错误内含子变异可能主要是由于覆​​盖率低造成的（图4）（ 附加文件4：表S4)。 图4 图4 内含子变重要变异的发现，范式可能会改变为对已知与疾病相关的小组基因进行测序，这在癌症基因组学中很常见。


都会经历选择性的前 mRNA 剪接，而影响剪接的突变比之前认为的更为普遍。pre-mRNA 剪接的机制非常复杂，需要 pre-mRNA、小核核糖核蛋白和剪接因子蛋白之间的多种相互作用。该过程的调节更加复杂，依赖于松散定义的顺式作用调节序列元件、反式作用-作用蛋白因子和细胞对不同环境条件的反应。许多不同的人类疾病可能是由 RNA 剪接或其调节错误引起的。靶向异常 RNA 提供了纠正错误剪接的机会，并有可能治疗多种遗传性疾病。反义寡核苷酸疗法在这一领域显示出特别的前景，如

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