A computational method for the identification of variants in nucleic acid sequences

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David Torrents Arenales,  Santiago González Rosado,  Valentí Moncunill Gonzalete
Barcelona Supercomputing Center - Centro Nacional De Supercomputacion (BSC-CNS), Institució Catalana de Recerca I Estudis Avançats (ICREA)


There is provided a computational method for the identification of nucleic acid variants between two cells, such as a normal cell vs. a pathological cell of a patient, or a cell at two different stages of development. The method is alignment-free, as it does not depend on the use of a reference genome, and accurately identifies all sorts of genetic variants, ranging from single nucleotide substitutions (SNVs) to large structural variants with great sensitivity and specificity. It thus allows to speed up in silico genomic analysis and personalized medicine.