CNVannotator: a comprehensive annotation server for copy number variation in the human genome

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• Copy number variation (CNV) represents a major source of genetic variation, impacting biological and pathological processes.
• Thousands of CNVs are identified by high-throughput sequencing, necessitating effective filtering and classification methods.

Purpose of the Study:

• To introduce CNVannotator, a novel web server designed for annotating human genomic copy number variations.
• To provide researchers with a user-friendly platform for classifying and analyzing CNVs based on diverse functional features.

Main Methods:

• Developed a web server accepting human genomic positions in a tabular format.
• Integrated extensive datasets including common CNVs, disease CNVs, GWAS SNPs, and various genomic features (e.g., ENCODE elements, genes, regulatory regions).
• Implemented filtering options for cancer research, focusing on tumor suppressor genes and oncogenes.

Main Results:

• CNVannotator offers genomic overlap analysis with over 5.2 million unique genomic coordinates and functional annotations.
• The server provides access to curated lists of common CNVs, disease-associated CNVs, and SNPs from GWAS.
• Includes comprehensive annotations for regulatory elements, cytobands, segmental duplications, and other genomic features.

Conclusions:

• CNVannotator serves as a valuable, comprehensive web resource for the annotation and analysis of human CNVs.
• Facilitates research by enabling classification and filtering of CNVs based on functional and clinical relevance.
• The freely accessible annotated results and server aim to support the broader research community.