CFHMM: Heterogeneous Tumor CNV Classification by Hidden Markov

Obradovic, Aleksandar; Qi, Hongjian

We here develop and implement a Clonal Fraction Hidden Markov Model (CFHMM), to leverage positional information in classifying Tumor CNVs and their corresponding clonal fraction from log-ratio-normalized Tumor/Normal sequencing data. In simulated data, this approach shows accurate calling of CNVs for high-fraction mutations, and improvement in calling over a naïve clustering benchmark across the board, as well as useful purity estimation for dominant clones. 


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Columbia Undergraduate Science Journal

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August 18, 2022