ACEseq
ACEseq (Allele-specific copy number estimation with whole genome sequencing) is a tool for estimating allele-specific copy numbers from human whole-genome sequencing data. It supports copy number analysis in tumour genomes and includes GC and replication timing bias correction, quality control, structural variant breakpoint integration, and automated estimation of ploidy and tumour cell content. ACEseq can be used with or without matched control samples.
Key benefits
Estimates allele-specific copy numbers from human WGS data
Supports tumour genome analysis with or without matched controls
Includes GC and replication timing bias correction
Provides quality checks and structural variant breakpoint inclusion
Supports automated estimation of ploidy, tumour cell content, and genomic instability scores
Applications
Allele-specific copy number analysis in cancer genomes
Whole-genome sequencing analysis of tumour samples
Estimation of ploidy and tumour cell content
Integration of structural variant breakpoints into copy number analysis
Calculation of HRD, TAI, and LST scores for genomic instability assessment
Intended use
ACEseq is intended for cancer genomics researchers, bioinformaticians, sequencing facilities, and clinical research groups working with human whole-genome sequencing data. It is particularly suited for projects that require allele-specific copy number estimation, tumour purity and ploidy assessment, or integration of copy number and structural variant information in WGS-based cancer genome analysis.
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