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Assessing tumor heterogeneity in bulk tumor DNA. Simulation of reads from a phylogenetic prior.

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Tumor Heterogeneity

Alexander Munoz, Emily Simons, Margaux Hujoel

Intratumor genetic variation is an established risk factor for decreased survival and increased likelihood of treatment failure (Mroz et al. 2015; Landau et al. 2013). One approach to assessing heterogeneity is to sample a tumor in multiple regions and evaluate for the presence of distinct subclones based on differences in somatic single nucleotide variants (SNVs). We present here a method for clustering shared versus private sSNVs and inferring a phylogenetic tree.

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Assessing tumor heterogeneity in bulk tumor DNA. Simulation of reads from a phylogenetic prior.

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