An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics personnel (not always available among laboratory resour...

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Bibliographic Details
Main Authors: Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Endocrinology
Subjects:
CNV detection
Targeted NGS data
Rare skeletal disease
Multiple Osteochondromas
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.874126/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.874126/full

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