Method | Summary | Input data type | Output | Publication | Tissue/blood |
PyClone | Allele read counts ->cellular prevalence estimation | .tsv file containing variant allele frequency and copy number variability | Clusters | Roth et al40 | ctDNA and tDNA |
SciClone | Like PyClone, but takes a narrow selection of genes (copy number neutral and loss of heterozygosity free) | .tsv file containing variant allele frequency, copy number variability, and common LOH site to exclude | Clusters | Miller et al44 | tDNA |
AFH | VAF/MSAF | VAF and MSAF | AFH Score | Liu et al47 | ctDNA and tDNA |
MATH | Width of the VAF distribution | VAF | MATH Score | Mroz and Rocco48 | tDNA |
Shannon’s Diversity Index | The negative sum of the natural log of the probability distribution of VAF for all mutated loci within a sample. | VAF | Diversity Index Score | Oh et al53 | tDNA |
AFH, allele frequency heterogeneity; ctDNA, circulating tumor DNA; LOH, loss of heterogeneity; MATH, mutant allele tumor heterogeneity; MSAF, maximum somatic allele frequency; tDNA, tumor DNA; VAF, variant allele frequency.