Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Univesity of Lausanne, Lausanne, Switzerland.
Brief Bioinform. 2022 Mar 10;23(2). doi: 10.1093/bib/bbac049.
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.
CoverageMaster（CoM）是一种基于深度覆盖图设计的拷贝数变异（CNV）调用算法，旨在检测外显子[全外显子组测序（WES）]和基因组[全基因组测序（WGS）]数据中任何大小的 CNV。该算法的核心是在多尺度小波空间中对测序覆盖数据进行压缩，并通过迭代隐马尔可夫模型进行分析。CoM 以核苷酸分辨率处理 WES 和 WGS 数据，准确检测和可视化全尺寸范围的 CNV，包括单个或部分外显子缺失和重复。该方法获得的结果支持基于覆盖的 CNV 调用器在不久的将来替代基于探针的方法，如阵列比较基因组杂交和多重连接依赖性探针扩增。
