Article

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

2021-03-20

Abstract excerpt

<h4>ABSTRACT</h4> 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 s...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e03a09c4-1ee9-5e30-8e9f-a3e0b6e44473
DOI: 10.1101/2021.03.19.21253806

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patientsDOI 10.1101/2021.03.19.21253806Read

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

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants onlineSemantic proximity Read

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

CNVannotator: a comprehensive annotation server for copy number variation in the human genome.Semantic proximity Read

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Semantic proximity Read

CNVineta: a data mining tool for large case-control copy number variation datasets.Semantic proximity Read

Rare Copy Number Variant analysis in case-control studies using SNP Array Data: a scalable and automated data analysis pipelineSemantic proximity Read

A Guide to Using ClinTAD for Interpretation of DNA Copy Number Variants in the Context of Topologically Associated Domains.Semantic proximity Read

Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics contextSemantic proximity Read

Automated prediction of the clinical impact of structural copy number variationsSemantic proximity Read

A machine-learning approach for accurate detection of copy-number variants from exome sequencingSemantic proximity Read

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchSemantic proximity Read