Fixed-size genomic binning enables copy number estimation with limited sequencing depth

Dividing the reference genome into nonoverlapping, fixed-sized bins (e.g., 15-kb bins) allows copy number estimation by counting reads per bin, and this binning strategy provides reasonable noise levels with as few as 6 million reads per sample. The bin size selection affects the resolution and noise characteristics of the copy number profile. [@scheinin_dna_2014]

Definitions

• selection pressure

Bibliography

• DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly