Article
An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data.
Genome research - 1 Jun 2015
Jun Goo, Wing Mary Kate, Abecasis Gonçalo R, Kang Hyun Min
Abstract excerpt
The analysis of next-generation sequencing data is computationally and statistically challenging because of the massive volume of data and imperfect data quality. We present GotCloud, a pipeline for efficiently detecting and genotyping high-quality variants from large-scale sequencing data. GotCloud automates sequence alignment, sample-level quality control, variant calling, filtering of likely artifacts using...
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