影响mRNA剪接的单核苷酸多态性的群体适合度和遗传负荷
Population Fitness and Genetic Load of Single Nucleotide Polymorphisms Affecting mRNA splicing
摘要：
有害的遗传变异可以使用基于信息论的识别位点序列分析作为数量性状进行评估。为了评估这些变体的影响，改变结合位点亲和力的SNP的适合度和遗传负荷来自个体信息和等位基因频率的变化。改变mRNA剪接的人类SNP根据其遗传负荷进行划分。具有高遗传负荷（> 0.5）的SNP在基因组中是常见的，并且在许多情况下，预测的效应得到基因表达研究的支持。
英文摘要：
Deleterious genetic variants can be evaluated as quantitative traits using information theory-based sequence analysis of recognition sites. To assess the effect of such variants, fitness and genetic load of SNPs which alter binding site affinity are derived from changes in individual information and allele frequencies. Human SNPs that alter mRNA splicing are partitioned according to their genetic load. SNPs with high genetic loads (>0.5) are common in the genome and, in many instances, predicted effects are supported by gene expression studies.
机构、总结、中文摘要均由AI分析而来，可能存在错误，请以论文正文为准。
