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 the Ion Reporter Software and the Illumina Nirvana Software often used in a clinical setting utilize information from the ClinVar database/archive to aid in variant interpretation. However, these existing annotation tools may lack access to the latest ClinVar data, necessitating manual variant inspection.

Aims

To address this gap in developing a tool providing the latest ClinVar data for variant annotation in clinical and research settings.

Materials and methods

We introduce CANVAR,

SUBMITTER: Vestergaard LK 

PROVIDER: S-EPMC11462301 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature