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

ABSTRACT:

Background

The androgen receptor (AR) is a nuclear receptor, encoded by the AR gene on the X chromosome. Within the first exon of the AR gene, two short tandem repeats (STR), CAG and GGC, are a source of polymorphism in the population. Therefore, high-throughput methods for screening AR, 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 AR gene.

Method

The AR gene of 228 infertile men was sequenced using NGSgene panel. Data generated were analyzed with HipSTR to detect CAG repeats. The accuracy was compared with the results obtained with Sanger.

Results

We fo

SUBMITTER: Rocca MS 

PROVIDER: S-EPMC7284049 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature