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Article

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.

Nucleic acids research - 2 Jul 2021

Requena Francisco, Abdallah Hamza Hadj, García Alejandro, Nitschké Patrick, Romana Sergi, Malan Valérie, Rausell Antonio

Abstract excerpt

Copy Number Variants (CNVs) are an important cause of rare diseases. Array-based Comparative Genomic Hybridization tests yield a ∼12% diagnostic rate, with ∼8% of patients presenting CNVs of unknown significance. CNVs interpretation is particularly challenging on genomic regions outside of those overlapping with previously reported structural variants or disease-associated genes. Recent studies showed that a more...

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PMID: 34019647
DOI: 10.1093/nar/gkab347
PMCID: PMC8262689

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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