9 resultados para Massively parallel sequencing

em WestminsterResearch - UK


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Cloud computing offers massive scalability and elasticity required by many scien-tific and commercial applications. Combining the computational and data handling capabilities of clouds with parallel processing also has the potential to tackle Big Data problems efficiently. Science gateway frameworks and workflow systems enable application developers to implement complex applications and make these available for end-users via simple graphical user interfaces. The integration of such frameworks with Big Data processing tools on the cloud opens new oppor-tunities for application developers. This paper investigates how workflow sys-tems and science gateways can be extended with Big Data processing capabilities. A generic approach based on infrastructure aware workflows is suggested and a proof of concept is implemented based on the WS-PGRADE/gUSE science gateway framework and its integration with the Hadoop parallel data processing solution based on the MapReduce paradigm in the cloud. The provided analysis demonstrates that the methods described to integrate Big Data processing with workflows and science gateways work well in different cloud infrastructures and application scenarios, and can be used to create massively parallel applications for scientific analysis of Big Data.

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The UMTS turbo encoder is composed of parallel concatenation of two Recursive Systematic Convolutional (RSC) encoders which start and end at a known state. This trellis termination directly affects the performance of turbo codes. This paper presents performance analysis of multi-point trellis termination of turbo codes which is to terminate RSC encoders at more than one point of the current frame while keeping the interleaver length the same. For long interleaver lengths, this approach provides dividing a data frame into sub-frames which can be treated as independent blocks. A novel decoding architecture using multi-point trellis termination and collision-free interleavers is presented. Collision-free interleavers are used to solve memory collision problems encountered by parallel decoding of turbo codes. The proposed parallel decoding architecture reduces the decoding delay caused by the iterative nature and forward-backward metric computations of turbo decoding algorithms. Our simulations verified that this turbo encoding and decoding scheme shows Bit Error Rate (BER) performance very close to that of the UMTS turbo coding while providing almost %50 time saving for the 2-point termination and %80 time saving for the 5-point termination.

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Turbo codes experience a significant decoding delay because of the iterative nature of the decoding algorithms, the high number of metric computations and the complexity added by the (de)interleaver. The extrinsic information is exchanged sequentially between two Soft-Input Soft-Output (SISO) decoders. Instead of this sequential process, a received frame can be divided into smaller windows to be processed in parallel. In this paper, a novel parallel processing methodology is proposed based on the previous parallel decoding techniques. A novel Contention-Free (CF) interleaver is proposed as part of the decoding architecture which allows using extrinsic Log-Likelihood Ratios (LLRs) immediately as a-priori LLRs to start the second half of the iterative turbo decoding. The simulation case studies performed in this paper show that our parallel decoding method can provide %80 time saving compared to the standard decoding and %30 time saving compared to the previous parallel decoding methods at the expense of 0.3 dB Bit Error Rate (BER) performance degradation.

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Desmoid-type fibromatoses are locally aggressive and frequently recurrent tumours, and an accurate diagnosis is essential for patient management. The majority of sporadic lesions harbour beta-catenin (CTNNB1) mutations. We used next-generation sequencing to detect CTNNB1 mutations and to compare the sensitivity and specificity of next-generation sequencing with currently employed mutation detection techniques: mutation-specific restriction enzyme digestion and polymerase chain reaction amplification. DNA was extracted from formalin-fixed paraffin-embedded needle biopsy or resection tissue sections from 144 patients with sporadic desmoid-type fibromatoses, four patients with syndrome-related desmoid-type fibromatoses and 11 morphological mimics. Two primer pairs were designed for CTNNB1 mutation hotspots. Using ≥10 ng of DNA, libraries were generated by Fluidigm and sequenced on the Ion Torrent Personal Genome Machine. Next-generation sequencing had a sensitivity of 92.36 % (133/144, 95 % CIs: 86.74 to 96.12 %) and a specificity of 100 % for the detection of CTNNB1 mutations in desmoid-type fibromatoses-like spindle cell lesions. All mutations detected by mutation-specific restriction enzyme digestion were identified by next-generation sequencing. Next-generation sequencing identified additional mutations in 11 tumours that were not detected by mutation-specific restriction enzyme digestion, two of which have not been previously described. Next-generation sequencing is highly sensitive for the detection of CTNNB1 mutations. This multiplex assay has the advantage of detecting additional mutations compared to those detected by mutation-specific restriction enzyme digestion (sensitivity 82.41 %). The technology requires minimal DNA and is time- and cost-efficient.

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The current epidemic of Hepatitis C infection in HIV-positive men who have sex with men is associated with increasing use of recreational drugs. Multiple HCV infections have been reported in haemophiliacs and intravenous drug users. Using ultra-deep sequencing analysis, we present the case of an HIV-positive MSM with evidence of three sequential HCV infections, each occurring during the acute phase of the preceding infection, following risk exposures. We observed rapid replacement of the original strain by the incoming genotype at subsequent time points. The impact of HCV super-infection remains unclear and UDS may provide new insights.

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This chapter compares recent policy on the use of English and Norwegian in Higher Education with earlier policies on the relationship between the two standard varieties of Norwegian, and it charts how and why English became a policy issue in Norway. Based on the experience of over a century of language planning, a highly interventionist approach is today being avoided and language policies in the universities of Norway seek to nurture a situation where English and Norwegian may be used productively side-by-side. However, there remain serious practical challenges to be overcome. This paper also builds on a previous analysis (Linn 2010b) of the metalanguage of Nordic language policy and seeks to clarify the use of the term ‘parallelingualism’.

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The time to process each of the W/B processing blocks of a median calculation method on a set of N W-bit integers is improved here by a factor of three compared with literature. The parallelism uncovered in blocks containing B-bit slices is exploited by independent accumulative parallel counters so that the median is calculated faster than any known previous method for any N, W values. The improvements to the method are discussed in the context of calculating the median for a moving set of N integers, for which a pipelined architecture is developed. An extra benefit of a smaller area for the architecture is also reported.