CANVAR: A Tool for Clinical Annotation of Variants Using ClinVar Databases

ABSTRACT Background Genomic medicine has transformed clinical genetics by utilizing high‐throughput sequencing technologies to analyze genetic variants associated with diseases. Accurate variant classification is crucial for diagnosis and treatment decisions, and various tools and software such as t...

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Bibliographic Details
Main Authors: Lau K. Vestergaard, Joanna Lopacinska‐Jørgensen, Estrid V. Høgdall
Format: Article
Language:English
Published: Wiley 2024-10-01
Series:Molecular Genetics & Genomic Medicine
Online Access:https://doi.org/10.1002/mgg3.70020