CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based on ExomeDepth software and applied it to ES data of 450 individuals. Initially, only CNVs affecting genes in the requested d...

Full description

Bibliographic Details
Main Authors: Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
arrayCGH (aCGH)
copy number variations (CNVs)
exome sequencing (ES)
MLPA
next-generation sequencing (NGS)
rare and undiagnosed disease
Online Access:https://www.mdpi.com/2073-4425/12/9/1427

Internet

https://www.mdpi.com/2073-4425/12/9/1427

Similar Items