Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis

Abstract Background With increased access to genetic testing, variants of uncertain significance (VUS) where pathogenicity is uncertain are being increasingly identified. More than 85% Osteogenesis Imperfecta (OI) patients have pathogenic variants in COL1A1/A2. However, when a VUS is identified, the...

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Bibliographic Details
Main Authors: Meena Balasubramanian, Emma Hobson, Mars Skae, Janine McCaughey, David J. Stephens
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
fractures
genetic analysis
osteogenesis imperfecta
targeted gene panel testing
Variant of uncertain significance
Online Access:https://doi.org/10.1002/mgg3.912

Internet

https://doi.org/10.1002/mgg3.912

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