Article

ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data

2020-07-02

Abstract excerpt

Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false positive rates. Here we present ClinSV , a WGS based SV integration, annotation, prioritisation and visualisation method, which identified 99.8% of pathogenic ClinVar CNVs >10kb and 11/11 pathogenic variants fro...

Topics

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

Identifiers and source

Literature Corpus work: 92ef02d0-505c-5da9-bc4a-62db51ff90ec
DOI: 10.1101/2020.06.30.20143453

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing dataDOI 10.1101/2020.06.30.20143453Read

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Semantic proximity Read

ClinCNV: multi-sample germline CNV detection in NGS dataSemantic proximity Read

JAX-CNV: A whole genome sequencing-based algorithm for copy number detection at clinical grade levelSemantic proximity Read

SavvyCNV: genome-wide CNV calling from off-target readsSemantic proximity Read

A systematic benchmark of copy number variation detection tools for high density SNP genotyping arrays.Semantic proximity Read

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

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genesSemantic proximity Read

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

SCCNV: a software tool for identifying copy number variation from single-cell whole-genome sequencingSemantic proximity Read

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

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

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.Semantic proximity Read