CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

ABSTRACT:

Motivation

Pathogenic copy-number variants (CNVs) can cause a heterogeneous spectrum of rare and severe disorders. However, most CNVs are benign and are part of natural variation in human genomes. CNV pathogenicity classification, genotype-phenotype analyses, and therapeutic target identification are challenging and time-consuming tasks that require the integration and analysis of information from multiple scattered sources by experts.

Results

Here, we introduce the CNV-ClinViewer, an open-source web application for clinical evaluation and visual exploration of CNVs. The application enables real-time interactive exploration of large CNV datasets in a user-friendly designed interface and facilitates semi-automated clinical CNV interpretation following the ACMG guidelines by i

SUBMITTER: Macnee M 

PROVIDER: S-EPMC10174702 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature