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Whole exome capture sequencing allows researchers to cost-effectively sequence the coding regions of the genome. Although the exome capture sequencing methods have become routine and well established, there is currently a lack of tools specialized for variant calling in this type of data. Using statistical models trained on validated whole-exome capture(More)
Analysis of DNA methylation patterns relies increasingly on sequencing-based profiling methods. The four most frequently used sequencing-based technologies are the bisulfite-based methods MethylC-seq and reduced representation bisulfite sequencing (RRBS), and the enrichment-based techniques methylated DNA immunoprecipitation sequencing (MeDIP-seq) and(More)
The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative(More)
Copy number alterations are important contributors to many genetic diseases, including cancer. We present the readDepth package for R, which can detect these aberrations by measuring the depth of coverage obtained by massively parallel sequencing of the genome. In addition to achieving higher accuracy than existing packages, our tool runs much faster by(More)
We present a new technique for identifying scalability bottlenecks in executions of single-program, multiple-data (SPMD) parallel programs, quantifying their impact on performance, and associating this information with the program source code. Our performance analysis strategy involves three steps. First, we collect call path profiles for two or more(More)
Co-array Fortran (CAF)-a small set of extensions to Fotran 90-is an emerging model for scalable, global address space parallel programming.CAF's global address space programming model simplifies the development of single-program-multiple-data parallel programs by shifting the burden for managing the details of communication from developers to compilers.This(More)
Dynamic changes to the epigenome play a critical role in establishing and maintaining cellular phenotype during differentiation, but little is known about the normal methylomic differences that occur between functionally distinct areas of the brain. We characterized intra- and inter-individual methylomic variation across whole blood and multiple regions of(More)
Co-array Fortran (CAF) and Unified Parallel C (UPC) are two emerging languages for single-program, multiple-data global address space programming. These languages boost programmer productivity by providing shared variables for inter-process communication instead of message passing. However, the performance of these emerging languages still has room for(More)
This paper presents an experimental investigation of the following questions: how does the average-case complexity of random 3-SAT, understood as a function of the order (number of variables) for fixed density (ratio of number of clauses to order) instances, depend on the density? Is there a phase transition in which the complexity shifts from polynomial to(More)