Open access journal

MOTIVATION: Identification of structural variants (SVs) in sequence data results in a large number of false positive calls using existing software, which overburdens subsequent validation. RESULTS: Simulations using RAPTR-SV and other, similar algorithms for SV detection revealed that RAPTR-SV had superior sensitivity and precision, as it recovered 66.4% of simulated tandem duplications with a precision of 99.2%. When compared with calls made by Delly and LUMPY on available datasets from the 1000 genomes project, RAPTR-SV showed superior sensitivity for tandem duplications, as it identified 2-fold more duplications than Delly, while making ∼85% fewer duplication predictions. AVAILABILITY AND IMPLEMENTATION: RAPTR-SV is written in Java and uses new features in the collections framework in the latest release of the Java version 8 language specifications. A compiled version of the software, instructions for usage and test results files are available on the GitHub repository page: https://github.com/njdbickhart/RAPTR-SV. CONTACT: [email protected].

SUMMARY The partial correlation coefficient with information theory (PCIT) method is an important technique for detecting interactions between networks. The PCIT algorithm has been used in the biological context to infer complex regulatory mechanisms and interactions in genetic networks, in genome wide association studies, and in other similar problems. In this work, the PCIT algorithm is re‐implemented with exemplary parallel, vector, input/output (I/O), memory, and instruction optimizations for today's multi‐core and many‐core architectures. The evolution and performance of the new code targets the processor architectures of the Stampede supercomputer but will also benefit other architectures. The Stampede system consists of an Intel Xeon E5 processor base system with an innovative component consist of Intel Xeon Phi Coprocessors. Optimized results and an analysis are presented for both the Xeon and the Xeon Phi. Copyright © 2014 John Wiley & Sons, Ltd.

Figure 1 Sample view of SNPLOTz output showing (a) SNP phenotypic value plot on bovine chromosome 2; (b) Interested data point can be linked to GBrowse for alignment with various structural genomics features, such as annotated transcripts and previously mapped QTL etc.

MOTIVATION: The field of microarray data analysis is shifting emphasis from methods for identifying differentially expressed genes to methods for identifying differentially expressed gene categories. The latter approaches utilize a priori information about genes to group genes into categories and enhance the interpretation of experiments aimed at identifying expression differences across treatments. While almost all of the existing approaches for identifying differentially expressed gene categories are practically useful, they suffer from a variety of drawbacks. Perhaps most notably, many popular tools are based exclusively on gene-specific statistics that cannot detect many types of multivariate expression change. RESULTS: We have developed a nonparametric multivariate method for identifying gene categories whose multivariate expression distribution differs across two or more conditions. We illustrate our approach and compare its performance to several existing procedures via the analysis of a real data set and a unique data-based simulation study designed to capture the challenges and complexities of practical data analysis. We show that our method has good power for differentiating between differentially expressed and non-differentially expressed gene categories, and we utilize a resampling based strategy for controlling the false discovery rate when testing multiple categories. AVAILABILITY: R code (www.r-project.org) for implementing our approach is available from the first author by request.