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Predictive computational phenotyping and biomarker discovery using reference-free genome comparisons.

Drouin A, Giguère S, Déraspe M, Marchand M, Tyers M, Loo VG, Bourgault AM, Laviolette F, Corbeil J

Department of Computer Science and Software Engineering, Université Laval, Québec, Canada. alexandre.drouin.8@ulaval.ca.

The identification of genomic biomarkers is a key step towards improving diagnostic tests and therapies. We present a reference-free method for this task that relies on a k-mer representation of genomes and a machine learning algorithm that produces intelligible models. The method is computationally scalable and well-suited for whole genome sequencing studies.

BMC Genomics 2016;17(1):754.

Pubmed ID: 27671088

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