[PMID:26809676] [Nucleic Acids Research]

Quantification of read species behavior within whole genome sequencing of cancer genomes for the stratification and visualization of genomic variation

“We introduce a heterogeneity-based method for stratifying and visualizing whole-genome sequencing (WGS) reads. This method uses the heterogeneity within WGS reads to markedly reduce the dimensionality of next-generation sequencing data; it is available through the tool HiBS (Heterogeneity-Based Subclassification) that allows cancer sample classification.” “The three major advantages of HiBS are: first, the read species based method helps in decisions regarding the tumor/normal source of the sample using only the structure of the data. Second, the algorithm is an extremely sensitive method of identifying specific amplification/deletion loci, making it suitable for loci targeting approaches. Third, the algorithm can be easily integrated within a tumor staging system to assist in diagnosis. “


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