Aims: Genomic studies play a major role in variant observations between and within populations and in identifying causal relationships between genotypes and phenotypes. Analyses using databases such as gnomAD can provide insight into the frequencies of alleles in large populations. There have been reports that detail such frequencies for several countries and ethnic groups, but as yet, there are no such datasets for the Czech population.

中文翻译：

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捷克神经遗传疾病患者的全外显子测序。

目的：基因组研究在人群之间和人群之间的变异观察以及鉴定基因型和表型之间的因果关系中起主要作用。使用诸如gnomAD之类的数据库进行的分析可以洞悉大型人群中的等位基因频率。有报告详细说明了几个国家和种族的频率，但到目前为止，还没有捷克人口的数据集。