Detecting copy number variation in next generation sequencing data from diagnostic gene panels

Detecting copy number variation in next generation sequencing data from diagnostic gene panels

Abstract Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detection based on NGS data is in general not often used i...

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Bibliographic Details
Main Authors: Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs, Wenche Sjursen
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Medical Genomics
Subjects:
Next generation sequencing (NGS)
Copy number variation (CNV)
Structural variant
Multiplex ligation-dependent probe amplification (MLPA)
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Online Access:https://doi.org/10.1186/s12920-021-01059-x

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