Article
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases.
Genetic testing and molecular biomarkers - 1 May 2020
Staněk David, Sedláčková Lucie, Seeman Pavel, Šafka Brožková Dana, Laššuthová Petra
Abstract excerpt
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...
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