CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.

Autor: Rapti M; Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.; Univesity of Lausanne, Lausanne, Switzerland., Zouaghi Y; Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.; Univesity of Lausanne, Lausanne, Switzerland., Meylan J; Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; University of Geneva Medical Faculty, Geneva, Switzerland., Santoni FA; Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Univesity of Lausanne, Lausanne, Switzerland.
Jazyk: angličtina
Zdroj: Briefings in bioinformatics [Brief Bioinform] 2022 Mar 10; Vol. 23 (2).
DOI: 10.1093/bib/bbac049
Abstrakt: 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.
(© The Author(s) 2022. Published by Oxford University Press.)
Databáze: MEDLINE
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