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

Melivoia Rapti; Yassine Zouaghi; Jenny Meylan; Emmanuelle Ranza; Stylianos E Antonarakis; Federico A Santoni

doi:10.1093/bib/bbac049

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

Brief Bioinform. 2022 Mar 10;23(2):bbac049. doi: 10.1093/bib/bbac049.

Authors

Melivoia Rapti^{1

2}, Yassine Zouaghi^{1

2}, Jenny Meylan¹, Emmanuelle Ranza³, Stylianos E Antonarakis^{3

4}, Federico A Santoni^{1

3

2}

Affiliations

¹ Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
² Univesity of Lausanne, Lausanne, Switzerland.
³ Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
⁴ University of Geneva Medical Faculty, Geneva, Switzerland.

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: copy number variants; medical genetics; signal processing.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Comparative Genomic Hybridization / methods
DNA Copy Number Variations*
Exome Sequencing
Exome*
High-Throughput Nucleotide Sequencing / methods
Whole Genome Sequencing