A Big Data Approach for Sequences Indexing on the Cloud via Burrows Wheeler Transform

Randazzo, Mario, Rombo, Simona E.

arXiv.org Artificial Intelligence 

Precision Medicine aims to design individualized strategies for diagnostic or therapeutic decision-making, based on both genotypic and phenotypic information. It allows scientists and clinicians to understand which therapeutic and preventive approaches to a specific illness can work effectively in subgroups of patients based on their genetic makeup, lifestyle, and environmental factors [15]. The diffusion of high-throughput assays, such as next-generation sequencing (NGS) and mass spectrometry (MS), has led to fast accumulation of sequences and other omics data which can be used to enable Precision Medicine in practice. As an example, specific disease biomarkers may be identified by cleaning up raw data generated by NGS or MS, and then experimentally validated in laboratory. An important problem in this context is the indexing of NGS data [8].

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