Identification of Genomic Aberrations in Cancer Subclones from Heterogeneous Tumor Samples

Tumor samples are usually heterogeneous, containing admixture of more than one kind of tumor subclones. Studies of genomic aberrations from heterogeneous tumor data are hindered by the mixed signal of tumor subclone cells. Most of the existing algorithms cannot distinguish contributions of different subclones from the measured single nucleotide polymorphism (SNP) array signals, which may cause erroneous estimation of genomic aberrations. Here, we have introduced a computational method, Cancer Heterogeneity Analysis from SNP-array Experiments (CHASE), to automatically detect subclone proportions and genomic aberrations from heterogeneous tumor samples. Our method is based on HMM, and incorporates EM algorithm to build a statistical model for modeling mixed signal of multiple tumor subclones. We tested the proposed approach on simulated datasets and two real datasets, and the results show that the proposed method can efficiently estimate tumor subclone proportions and recovery the genomic aberrations.