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Enabling Genomics Pipelines in Commodity Personal Computers With Flash Storage

Authors: Cadenelli, Nicola; Jun, Sang-Woo; Polo Bardés, Jorda; Wright, Andrew J.; Carrera Pérez, David; Mithal, Arvind;

Enabling Genomics Pipelines in Commodity Personal Computers With Flash Storage

Abstract

Analysis of a patient's genomics data is the first step toward precision medicine. Such analyses are performed on expensive enterprise-class server machines because input data sets are large, and the intermediate data structures are even larger (TB-size) and require random accesses. We present a general method to perform a specific genomics problem, mutation detection, on a cheap commodity personal computer (PC) with a small amount of DRAM. We construct and access large histograms of k-mers efficiently on external storage (SSDs) and apply our technique to a state-of-the-art reference-free genomics algorithm, SMUFIN, to create SMUFIN-F. We show that on two PCs, SMUFIN-F can achieve the same throughput at only one third (36%) the hardware cost and half (45%) the energy compared to SMUFIN on an enterprise-class server. To the best of our knowledge, SMUFIN-F is the first reference-free system that can detect somatic mutations on commodity PCs for whole human genomes. We believe our technique should apply to other k-mer or n-gram-based algorithms.

Country
Spain
Keywords

:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], precision medicine, QH426-470, Flash storage, flash storage, Genètica mèdica, asynchronous key-value store, Medicina preventiva, Asynchronous key-value store, Preventive, Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica, Genetics, Medicine, Preventive, K-mers, NVME, Medical genetics, Precision medicine, Genomics, Genòmica, N-grams, Medicine

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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