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Article

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

Molecular genetics & genomic medicine - 1 Oct 2024

Vestergaard Lau K, Lopacinska-Jørgensen Joanna, Høgdall Estrid V

Abstract excerpt

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 the Ion Reporter Software and the Illumina Nirvana Software often used in a clinical setting utilize information from the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39382066
DOI: 10.1002/mgg3.70020
PMCID: PMC11462301

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