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  • Computational Methods, Genomics  (42)
  • Other low-carbon energy technologies  (9)
  • Oxford University Press  (51)
  • 1
    Publikationsdatum: 2016-06-03
    Beschreibung: Next generation sequencing of cellular RNA is making it possible to characterize genes and alternative splicing in unprecedented detail. However, designing bioinformatics tools to accurately capture splicing variation has proven difficult. Current programs can find major isoforms of a gene but miss lower abundance variants, or are sensitive but imprecise. CLASS2 is a novel open source tool for accurate genome-guided transcriptome assembly from RNA-seq reads based on the model of splice graph. An extension of our program CLASS, CLASS2 jointly optimizes read patterns and the number of supporting reads to score and prioritize transcripts, implemented in a novel, scalable and efficient dynamic programming algorithm. When compared against reference programs, CLASS2 had the best overall accuracy and could detect up to twice as many splicing events with precision similar to the best reference program. Notably, it was the only tool to produce consistently reliable transcript models for a wide range of applications and sequencing strategies, including ribosomal RNA-depleted samples. Lightweight and multi-threaded, CLASS2 requires 〈3GB RAM and can analyze a 350 million read set within hours, and can be widely applied to transcriptomics studies ranging from clinical RNA sequencing, to alternative splicing analyses, and to the annotation of new genomes.
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
    Publikationsdatum: 2015-04-21
    Beschreibung: Next-generation sequencing (NGS) approaches rapidly produce millions to billions of short reads, which allow pathogen detection and discovery in human clinical, animal and environmental samples. A major limitation of sequence homology-based identification for highly divergent microorganisms is the short length of reads generated by most highly parallel sequencing technologies. Short reads require a high level of sequence similarities to annotated genes to confidently predict gene function or homology. Such recognition of highly divergent homologues can be improved by reference-free ( de novo ) assembly of short overlapping sequence reads into larger contigs. We describe an ensemble strategy that integrates the sequential use of various de Bruijn graph and overlap-layout-consensus assemblers with a novel partitioned sub-assembly approach. We also proposed new quality metrics that are suitable for evaluating metagenome de novo assembly. We demonstrate that this new ensemble strategy tested using in silico spike-in, clinical and environmental NGS datasets achieved significantly better contigs than current approaches.
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
    BibTip Andere fanden auch interessant ...
  • 3
    Publikationsdatum: 2014-05-01
    Beschreibung: Molecular stratification of tumors is essential for developing personalized therapies. Although patient stratification strategies have been successful; computational methods to accurately translate the gene-signature from high-throughput platform to a clinically adaptable low-dimensional platform are currently lacking. Here, we describe PIGExClass (platform-independent isoform-level gene-expression based classification-system), a novel computational approach to derive and then transfer gene-signatures from one analytical platform to another. We applied PIGExClass to design a reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR) based molecular-subtyping assay for glioblastoma multiforme (GBM), the most aggressive primary brain tumors. Unsupervised clustering of TCGA (the Cancer Genome Altas Consortium) GBM samples, based on isoform-level gene-expression profiles, recaptured the four known molecular subgroups but switched the subtype for 19% of the samples, resulting in significant ( P = 0.0103) survival differences among the refined subgroups. PIGExClass derived four-class classifier, which requires only 121 transcript-variants, assigns GBM patients’ molecular subtype with 92% accuracy. This classifier was translated to an RT-qPCR assay and validated in an independent cohort of 206 GBM samples. Our results demonstrate the efficacy of PIGExClass in the design of clinically adaptable molecular subtyping assay and have implications for developing robust diagnostic assays for cancer patient stratification.
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
    Publikationsdatum: 2016-04-21
    Beschreibung: The identification of genes with specific patterns of change (e.g. down-regulated and methylated) as phenotype drivers or samples with similar profiles for a given gene set as drivers of clinical outcome, requires the integration of several genomic data types for which an ‘integrate by intersection’ (IBI) approach is often applied. In this approach, results from separate analyses of each data type are intersected, which has the limitation of a smaller intersection with more data types. We introduce a new method, GISPA (Gene Integrated Set Profile Analysis) for integrated genomic analysis and its variation, SISPA (Sample Integrated Set Profile Analysis) for defining respective genes and samples with the context of similar, a priori specified molecular profiles. With GISPA, the user defines a molecular profile that is compared among several classes and obtains ranked gene sets that satisfy the profile as drivers of each class. With SISPA, the user defines a gene set that satisfies a profile and obtains sample groups of profile activity. Our results from applying GISPA to human multiple myeloma (MM) cell lines contained genes of known profiles and importance, along with several novel targets, and their further SISPA application to MM coMMpass trial data showed clinical relevance.
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
    BibTip Andere fanden auch interessant ...
  • 5
    Publikationsdatum: 2015-08-16
    Beschreibung: Natural gas is an extremely important bridge fuel to a low-carbon energy economy for improving local air quality. Coal to synthetic natural gas (SNG) is an effective way to convert the high-carbon energy (coal) into the low-carbon energy with rich hydrogen (natural gas). For the modern coal to SNG industry, the high-temperature methanation (HTM) catalyst plays an important role, and the advanced evaluation process should necessitate the elimination of mass transfer effect. Some simple but effective model catalysts, such as slab and sphere, can be very helpful in defining the reaction conditions, and thus facilitating the evaluation process for real HTM catalysts. In this work, slab and sphere model catalysts were adopted to derive mass transfer and reaction-coupled equations, the numerical methods were used to solve the coupled equations for the concentration profiles in catalysts, and the effectiveness factors were accordingly calculated. By taking advantage of the Thiele module and the Weisz–Prater module , the criteria for the elimination of mass transfer effect in the HTM catalyst evaluation process were successfully defined. This work also complements the Weisz–Prater criterion by incorporating ‘negative reaction orders’.
    Schlagwort(e): Other low-carbon energy technologies
    Print ISSN: 1748-1317
    Digitale ISSN: 1748-1325
    Thema: Energietechnik , Maschinenbau
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
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  • 6
    Publikationsdatum: 2015-08-16
    Beschreibung: The energy expended for conditioning buildings around the world is worryingly large and increasing every year. Currently, almost half of houses around the world use some type of energy-expensive conventional air-conditioning system. These systems are high emitters of gases such as carbon dioxide and so high contributors to climate change. Consequently, alternatives must be considered. Earth–air heat exchangers (EAHEs) and phase-change materials (PCMs) may be options; they have, however, limitations. This paper proposes a novel hybrid space-conditioning system combining EAHEs with PCMs, which uses surfaces as sources of heating or cooling to provide better temperature distribution across a space and comfort enhancement with low energy use. The idea is to use an EAHE to provide cool air to discharge the PCM, consequently helping to overcome most of the limitations of both strategies. Two of a series of experiments undertaken to test the proposed system are reported in this article. The EAHE + PCM system compared with a reference room could decrease temperature swings by up to 47%. The system was proved to work although further work is required to make it commercially viable.
    Schlagwort(e): Other low-carbon energy technologies
    Print ISSN: 1748-1317
    Digitale ISSN: 1748-1325
    Thema: Energietechnik , Maschinenbau
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
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  • 7
    Publikationsdatum: 2015-08-16
    Beschreibung: The thermal performance of a disc-shaped heat generation body with cooling channels is investigated by using constructal theory based on previous model of heat convection on a disc and previous analytical method of heat conduction on a disc. By taking minimum dimensionless maximum thermal resistance as optimization objective, the optimal aspect ratio of the elemental sector in the radial-pattern disc is obtained for the specified power pumping of the elemental sector; the optimal width ratio of the first-order and elemental cooling channels and the optimal dimensionless radius of the elemental sector are obtained for the specified power pumping of the disc. There exists a critical radius of the disc to determine whether the radial-pattern design and branched-pattern design should be adopted. These conclusions are different from those obtained by Wechsatol et al. 's model, and the essential reason for these differences is that the power pumping is specified in this article, but not the specified flow rate number in Wechsatol et al. 's model. Finally, the assumption about the heat capacity of the coolant and the thermal conductivity of the disc is validated. An analytical method is introduced in this article, which can provide another thought for the constructal optimization of disc with heat convection. The optimal constructs of the discs are obtained for the specified power pumping, which provides some different guidelines for the design of disc with heat convection.
    Schlagwort(e): Other low-carbon energy technologies
    Print ISSN: 1748-1317
    Digitale ISSN: 1748-1325
    Thema: Energietechnik , Maschinenbau
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
    BibTip Andere fanden auch interessant ...
  • 8
    Publikationsdatum: 2016-05-06
    Beschreibung: The Cancer Genome Atlas (TCGA) research network has made public a large collection of clinical and molecular phenotypes of more than 10 000 tumor patients across 33 different tumor types. Using this cohort, TCGA has published over 20 marker papers detailing the genomic and epigenomic alterations associated with these tumor types. Although many important discoveries have been made by TCGA's research network, opportunities still exist to implement novel methods, thereby elucidating new biological pathways and diagnostic markers. However, mining the TCGA data presents several bioinformatics challenges, such as data retrieval and integration with clinical data and other molecular data types (e.g. RNA and DNA methylation). We developed an R/Bioconductor package called TCGAbiolinks to address these challenges and offer bioinformatics solutions by using a guided workflow to allow users to query, download and perform integrative analyses of TCGA data. We combined methods from computer science and statistics into the pipeline and incorporated methodologies developed in previous TCGA marker studies and in our own group. Using four different TCGA tumor types (Kidney, Brain, Breast and Colon) as examples, we provide case studies to illustrate examples of reproducibility, integrative analysis and utilization of different Bioconductor packages to advance and accelerate novel discoveries.
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
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  • 9
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    Unbekannt
    Oxford University Press
    Publikationsdatum: 2016-07-09
    Beschreibung: Many genomes display high levels of heterozygosity (i.e. presence of different alleles at the same loci in homologous chromosomes), being those of hybrid organisms an extreme such case. The assembly of highly heterozygous genomes from short sequencing reads is a challenging task because it is difficult to accurately recover the different haplotypes. When confronted with highly heterozygous genomes, the standard assembly process tends to collapse homozygous regions and reports heterozygous regions in alternative contigs. The boundaries between homozygous and heterozygous regions result in multiple assembly paths that are hard to resolve, which leads to highly fragmented assemblies with a total size larger than expected. This, in turn, causes numerous problems in downstream analyses such as fragmented gene models, wrong gene copy number, or broken synteny. To circumvent these caveats we have developed a pipeline that specifically deals with the assembly of heterozygous genomes by introducing a step to recognise and selectively remove alternative heterozygous contigs. We tested our pipeline on simulated and naturally-occurring heterozygous genomes and compared its accuracy to other existing tools. Our method is freely available at https://github.com/Gabaldonlab/redundans .
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
    BibTip Andere fanden auch interessant ...
  • 10
    Publikationsdatum: 2013-06-08
    Beschreibung: The introduction of next generation sequencing methods in genome studies has made it possible to shift research from a gene-centric approach to a genome wide view. Although methods and tools to detect single nucleotide polymorphisms are becoming more mature, methods to identify and visualize structural variation (SV) are still in their infancy. Most genome browsers can only compare a given sequence to a reference genome; therefore, direct comparison of multiple individuals still remains a challenge. Therefore, the implementation of efficient approaches to explore and visualize SVs and directly compare two or more individuals is desirable. In this article, we present a visualization approach that uses space-filling Hilbert curves to explore SVs based on both read-depth and pair-end information. An interactive open-source Java application, called Meander , implements the proposed methodology, and its functionality is demonstrated using two cases. With Meander , users can explore variations at different levels of resolution and simultaneously compare up to four different individuals against a common reference. The application was developed using Java version 1.6 and Processing.org and can be run on any platform. It can be found at http://homes.esat.kuleuven.be/~bioiuser/meander .
    Schlagwort(e): Computational Methods, Genomics
    Print ISSN: 0305-1048
    Digitale ISSN: 1362-4962
    Thema: Biologie
    Publiziert von Oxford University Press
    Standort Signatur Erwartet Verfügbarkeit
    BibTip Andere fanden auch interessant ...
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