标题： 单核苷酸多态性影响mRNA剪接的种群适应度和遗传负荷 显示英文标题

标题： Population Fitness and Genetic Load of Single Nucleotide Polymorphisms Affecting mRNA splicing

摘要： 通过基于信息理论的识别位点序列分析，有害的遗传变异可以作为数量性状进行评估。 为了评估这些变异的影响，改变结合位点亲和力的SNP的适应度和遗传负荷是从个体信息和等位基因频率的变化中推导出来的。 改变mRNA剪接的人类SNPs根据其遗传负荷进行分类。 遗传负荷较高（>0.5）的SNP在基因组中很常见，并且在许多情况下，预测的影响得到了基因表达研究的支持。 显示英文摘要

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.