ACE

ACE estimates absolute DNA copy numbers and tumor purity by scaling relative copy number signals from chromosomal segments, without requiring additional genetic information such as SNP data.

Key Features:

• Absolute Copy Number Scaling: Scales relative copy number signals from chromosomal segments to optimally fit absolute copy numbers.
• Tumor Purity Estimation: Derives an estimate of tumor cell percentage simultaneously with absolute copy number estimation.
• Single Sample Analysis: Generates output for individual samples with customizable models.
• Batch Processing: Facilitates analysis of large numbers of samples efficiently.

Scientific Applications:

• Tumor Genomics: Enables detection and quantification of chromosomal copy number aberrations in tumor samples using low-coverage whole-genome sequencing data.
• Copy Number Profiling: Produces copy number plots displaying absolute copy numbers for visual interpretation of genomic alterations.

Methodology:

ACE uses segmented copy number data from low-coverage whole-genome sequencing and scales relative copy number signals from chromosomal segments to optimally fit absolute copy numbers.