CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Details
State: Public
Version: Final published version
License: CC BY-NC 4.0
Serval ID
serval:BIB_0D3665C835DD
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Journal
Briefings in bioinformatics
ISSN
1477-4054 (Electronic)
ISSN-L
1467-5463
Publication state
Published
Issued date
10/03/2022
Peer-reviewed
Oui
Volume
23
Number
2
Pages
bbac049
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
CoverageMaster (CoM) is a copy number variation (CNV) calling algorithm based on depth-of-coverage maps designed to detect CNVs of any size in exome [whole exome sequencing (WES)] and genome [whole genome sequencing (WGS)] data. The core of the algorithm is the compression of sequencing coverage data in a multiscale Wavelet space and the analysis through an iterative Hidden Markov Model. CoM processes WES and WGS data at nucleotide scale resolution and accurately detects and visualizes full size range CNVs, including single or partial exon deletions and duplications. The results obtained with this approach support the possibility for coverage-based CNV callers to replace probe-based methods such as array comparative genomic hybridization and multiplex ligation-dependent probe amplification in the near future.
Keywords
Comparative Genomic Hybridization/methods, DNA Copy Number Variations, Exome, High-Throughput Nucleotide Sequencing/methods, Exome Sequencing, Whole Genome Sequencing, copy number variants, medical genetics, signal processing
Pubmed
Web of science
Open Access
Yes
Create date
07/03/2022 12:24
Last modification date
02/02/2023 7:52