Eldarina Azfar Wijaya

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The rapid evolution of Next Generation Sequencing technology will soon make it possible to test patients for genetic disorders at population scale. However, clinical interpretation of human variants extracted from raw NGS data in the clinical setting is likely to become a bottleneck, as long as it requires expert human judgement. While several attempts are(More)
In this paper we describe our initial experiences in the Cloud-e-Genome project with moving the whole exome sequencing pipeline from the scripted HPC-based solution to a workflow enactment system running in the cloud. We discuss shortcomings of the existing approach based on scripts and list benefits that a workflow-based solution can provide. Despite the(More)
The cost of deriving actionable knowledge from large datasets has been decreasing thanks to a convergence of positive factors: low cost data generation, inexpensively scalable storage and processing infrastructure (cloud), software frameworks and tools for massively distributed data processing, and parallelisable data analytics algorithms. One observation(More)
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