2012
DOI: 10.3390/genes3030545
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Next Generation Sequence Analysis and Computational Genomics Using Graphical Pipeline Workflows

Abstract: Whole-genome and exome sequencing have already proven to be essential and powerful methods to identify genes responsible for simple Mendelian inherited disorders. These methods can be applied to complex disorders as well, and have been adopted as one of the current mainstream approaches in population genetics. These achievements have been made possible by next generation sequencing (NGS) technologies, which require substantial bioinformatics resources to analyze the dense and complex sequence data. The huge an… Show more

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Cited by 45 publications
(34 citation statements)
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“…Institutions are developing user-friendly analysis that are already being adapted for the clinical laboratory in standard configurations. 108,109 Many of the problems encountered applying existing sequence interpretation methods to the clinical laboratory grow out of the poor programing practices of professional biologists and software designed for ultimate flexibility instead of efficiency, which is a balance struck in the research laboratory but ill-suited to the clinic.…”
Section: Data Storage Problemsmentioning
confidence: 99%
“…Institutions are developing user-friendly analysis that are already being adapted for the clinical laboratory in standard configurations. 108,109 Many of the problems encountered applying existing sequence interpretation methods to the clinical laboratory grow out of the poor programing practices of professional biologists and software designed for ultimate flexibility instead of efficiency, which is a balance struck in the research laboratory but ill-suited to the clinic.…”
Section: Data Storage Problemsmentioning
confidence: 99%
“…A prior study analyzing workflows from different workflow systems and domains showed that almost 20% percent of the analyzed workflows were composed of other workflows [6]. Some systems even allow users to define hierarchical workflows to exploit these commonalities and split workflows into smaller reusable parts [15] [21]. However, there is not much support for the automatic detection of sub-workflows at the moment.…”
Section: Introductionmentioning
confidence: 99%
“…We evaluate our approach by comparing automatically detected workflow fragments to sub-workflows (groupings) created by users of the LONI Pipeline, a workflow system for neuroimaging analysis [21]. This paper is structured as follows.…”
Section: Introductionmentioning
confidence: 99%
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“…2. Decryption Process (DP), [9] The Index Generation Process (IGP), starts with a fixed announced (16*16) 16 table, then a randomly generated SharedValue is used to mix up the initial table to produce Transformation- Table, then the table is used as a Table-ofIndexes, which is used in both (EP) and (DP) processes. See Index Generation Process (IGP), [9].…”
Section: Related Workmentioning
confidence: 99%