Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.

China NaganoKandai NozuNaoya MorisadaMasahiko YazawaDaisuke IchikawaKeita NumasawaHiroyo KourakataChieko MatsumuraSatoshi TazoeRyojiro TanakaTomohiko YamamuraShogo MinamikawaTomoko HorinouchiKeita NakanishiJunya FujimuraNana SakakibaraYoshimi NozuMing Juan YeHiroshi KaitoKazumoto Iijima

Published in: Clinical and experimental nephrology (2018)

We presented seven cases with CNVs in various genes that were screened by pair analysis. The NGS-based CNV detection method is useful for comprehensive screening of CNVs, and our results revealed that, for a certain proportion of cases, CNV analysis is necessary for accurate genetic diagnosis.

Keyphrases

copy number
genome wide
mitochondrial dna
label free
high resolution
electronic health record
big data
genome wide identification