Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene

摘要

The androgen receptor (AR) is a nuclear receptor, encoded by the gene on the X chromosome. Within the first exon of the gene, two short tandem repeats (STR), CAG and GGC, are a source of polymorphism in the population. Therefore, high‐throughput methods for screening , such as next‐generation sequencing (NGS), are sought after; however, data generated by NGS are limited by the availability of bioinformatics tools. Here, we evaluated the accuracy of the bioinformatics tool HipSTR in detecting and quantify CAG repeats within the gene.