Article

CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants

2024-04-30

Abstract excerpt

<title>Abstract</title> <p>The precise classification of copy number variants (<bold>CNVs</bold>) presents a significant challenge in genomic medicine, primarily due to the complex nature of CNVs and their diverse impact on genetic disorders. This complexity is compounded by the limitations of existing methods in accurately distinguishing between benign, uncertain, and pathogenic CNVs. Addressing this gap, we int...

Topics

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

Identifiers and source

Literature Corpus work: 47d61300-3467-543b-b16b-305281835006
DOI: 10.21203/rs.3.rs-4308324/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number VariantsDOI 10.21203/rs.3.rs-4308324/v1Read

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

ClassifyCNV: a tool for clinical annotation of copy-number variantsSemantic proximity Read

Automated prediction of the clinical impact of structural copy number variationsSemantic 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

Combination of Expert Guidelines-based and Machine Learning-based Approaches Leads to Superior Accuracy of Automated Prediction of Clinical Effect of Copy Number VariationsSemantic proximity Read

CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasetsSemantic proximity Read

X-CNV: genome-wide prediction of the pathogenicity of copy number variations.Semantic proximity Read

TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVsSemantic proximity Read

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

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK BiobankSemantic 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