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

Maria Santa RoccaMargherita FerrariniAichi MsakiCinzia VinanziMarco GhezziMaurizio De Rocco PonceCarlo ForestaAlberto Ferlin

Published in: Molecular genetics & genomic medicine (2020)

Our 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.

Keyphrases

genome wide
middle aged
single cell
high throughput
copy number
high resolution
dna methylation
type diabetes
gene expression
metabolic syndrome
mass spectrometry
transcription factor
insulin resistance
skeletal muscle