Article

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH

2021-04-06

Abstract excerpt

<h4>Summary</h4> Here we present an R package for summarizing, annotating, converting, comparing and visualizing CNV (copy number variants) and ROH (runs of homozygosity) detected from SNP (single nucleotide polymorphism) genotyping data. This one-stop post-analysis system is standardized, comprehensive, reproducible, timesaving and user friendly for research in humans and most diploid livestock species. <h4>Avai...

Topics

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

Identifiers and source

Literature Corpus work: 0cdd3b49-c723-528c-9b16-fd9a3c34f7a7
DOI: 10.1101/2021.04.05.438403

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROHDOI 10.1101/2021.04.05.438403Read

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 onlineSemantic proximity Read

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

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

Copy number variants in the sheep genome detected using multiple approachesSemantic proximity Read

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

CNVizard – a lightweight streamlit application for an interactive analysis of copy number variantsSemantic proximity Read

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

Statistical Detection of Genome Differences Based on CNV Segments.Semantic proximity Read

VisVariant: A java program to visualise genetic variants in next-generation sequencing dataSemantic proximity Read

An atlas of CNV maps in cattle, goat and sheep.Semantic proximity Read

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing dataSemantic proximity Read