Downloads provided by UsageCounts
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.
: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
: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
| selected citations These citations are derived from selected sources. 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). | 0 | |
| 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. | Average | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
| views | 51 | |
| downloads | 41 |

Views provided by UsageCounts
Downloads provided by UsageCounts