Table 1

Tumor heterogeneity methods compared

MethodSummaryInput data typeOutputPublicationTissue/blood
PyCloneAllele read counts ->cellular prevalence estimation.tsv file containing variant allele frequency and copy number variabilityClustersRoth et al40ctDNA and tDNA
SciCloneLike 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 excludeClustersMiller et al44tDNA
AFHVAF/MSAFVAF and MSAFAFH ScoreLiu et al47ctDNA and tDNA
MATHWidth of the VAF distributionVAFMATH ScoreMroz and Rocco48tDNA
Shannon’s Diversity IndexThe negative sum of the natural log of the probability distribution of VAF for all mutated loci within a sample.
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VAFDiversity Index ScoreOh et al53tDNA
  • 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.