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BACOM is a statistically principled and unsupervised method that detects copy number deletion types (homozygous versus heterozygous), estimates normal cell fraction, and recovers cancer specific copy number profiles, using allele specific copy number signals. In a subsequent analysis of TCGA ovarian cancer dataset, the average normal cell fraction estimated by BACOM was found higher than expected. In this letter, we first discuss the advantages of the BACOM in relation to alternative approaches. Then, we show that this elevated estimate of normal cell fraction is the combined result of inaccurate signal modeling and normalization. Lastly, we describe an allele specific signal modeling and normalization scheme that can enhance BACOM applications in many biological contexts. An open source MATLAB program was developed to implement our extended method and it is publically available.
Identifying subgroups and properties of cancer biopsy samples is a crucial step towards obtaining precise diagnoses and being able to perform personalized treatment of cancer patients. Recent data collections provide a comprehensive characterization
We develop a cross-platform open-source Java application (BACOM2) with graphic user interface (GUI), and users also can use a XML file to set the parameters of algorithm model, file paths and the dataset of paired samples. BACOM2 implements the new e
The Kolmogorov-Arnold stochasticity parameter technique is applied for the first time to the study of cancer genome sequencing, to reveal mutations. Using data generated by next generation sequencing technologies, we have analyzed the exome sequences
The proper functioning of mitochondria requires that both the mitochondrial and the nuclear genome are functional. To investigate the importance of the mitochondrial genome, which encodes only 13 subunits of the respiratory complexes, the mitochondri
Motivation: As cancer researchers have come to appreciate the importance of intratumor heterogeneity, much attention has focused on the challenges of accurately profiling heterogeneity in individual patients. Experimental technologies for directly pr