Article

CNVizard – a lightweight streamlit application for an interactive analysis of copy number variants

2024-06-17

Abstract excerpt

<h4>Methods: </h4> to call, analyze and visualize copy number variations (CNVs) from massive parallel sequencing data have been widely adopted in clinical practice and genetic research. To enable a streamlined analysis of CNV data, comprehensive annotation and good visualization are indispensable. The ability to detect single exon CNVs is another important feature for genetic testing. Nonetheless, most available o...

Topics

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

Identifiers and source

Literature Corpus work: 63efe7aa-27b5-50a4-904a-51da2eb9d2d8
DOI: 10.1101/2024.06.14.598969

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CNVizard – a lightweight streamlit application for an interactive analysis of copy number variantsDOI 10.1101/2024.06.14.598969Read

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

Rapid, Reliable, and Interpretable CNV Curation Visualizations for Diagnostic Settings with SeeNVSemantic proximity Read

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

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics HackathonSemantic proximity Read

T-CNV: a robust tool for detecting and visualizing copy number variants in targeted sequencing data.Semantic proximity Read

nf-core/cnvflow: A Robust Nextflow Pipeline for Reproducible CNV Detection from Exome DataSemantic proximity Read

CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing.Semantic proximity Read

GeNePi: a graphics processing unit enhanced next-generation bioinformatics pipeline for whole-genome sequencing analysis.Semantic proximity Read

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

Hadoop-CNV-RF: a clinically validated and scalable copy number variation detection tool for next-generation sequencing dataSemantic proximity Read

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

GenMasterTable: A user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variantsSemantic proximity Read