ClassifyCNV

ClassifyCNV assesses the pathogenicity of germline copy-number variants (CNVs) according to the 2019 American College of Medical Genetics and Genomics (ACMG) guidelines for clinical interpretation.

Key Features:

• Implementation of ACMG Guidelines: Implements the 2019 ACMG guidelines for classifying CNVs.
• Input Requirements: Accepts genomic coordinates and CNV type as inputs for each variant.
• Output Details: Provides a clinical classification per CNV, a detailed breakdown of the classification score, and a list of genes potentially impacted by the CNVs.
• Integration Capability: Supports integration into next-generation sequencing (NGS) analysis pipelines and high-throughput CNV analysis.

Scientific Applications:

• Clinical CNV Interpretation: Supports clinical evaluation of patients with neurodevelopmental disorders and congenital anomalies by providing CNV classification and annotation.

Methodology:

Implemented in Python 3 and runs on UNIX, Linux, and Mac OS X.