Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.

Tomohiko YamamuraKandai NozuShogo MinamikawaTomoko HorinouchiNana SakakibaraChina NaganoYuya AotoShinya IshikoKoichi NakanishiYuko ShimaHiroaki NagaseRini RossantiMing J YeYoshimi NozuShingo IshimoriNaoya MorisadaHiroshi KaitoKazumoto Iijima

Published in: Molecular genetics & genomic medicine (2019)

Our results reveal that Sanger sequencing and targeted exome sequencing have high diagnostic ability. NGS also has the advantage of detecting other inherited kidney diseases and pathogenic mutations missed by Sanger sequencing.

Keyphrases

single cell
genome wide
copy number
gene expression
case report