ArticleMolecular genetics & genomic medicine2020
Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Computational tools for tandem repeat detection using long-read sequencing.Briefings in bioinformatics · 2026Review
- The Consistency ofInternational journal of endocrinology · 2025Review
- The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases.The Journal of clinical endocrinology and metabolism · 2024Article
- Article
- Short Tandem Repeats as a High-Resolution Marker for Capturing Recent Orangutan Population Evolution.Frontiers in bioinformatics · 2021Article
- Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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.
methodThe 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.
resultsWe found that HipSTR was more accurate than Sanger in genotyping normal karyotype men (46,XY), however, it was more likely to misidentify homozygote genotypes in men with Klinefelter syndrome (47,XXY).
conclusionOur findings show that the bioinformatics tool HipSTR is 100% accurate in detecting and assessing AR CAG repeats in infertile men (46,XY) as well as in men with low-level mosaicism.
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