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ABSTRACT: Background
High-throughput sequencing has become one of the primary tools for investigation of the molecular basis of disease. The increasing use of sequencing in investigations that aim to understand both individuals and populations is challenging our ability to develop analysis tools that scale with the data. This issue is of particular concern in studies that exhibit a wide degree of heterogeneity or deviation from the standard reference genome. The advent of population scale sequencing studies requires analysis tools that are developed and tested against matching quantities of heterogeneous data.Results
We developed a large-scale whole genome simulation tool, FIGG, which generates large numbers of whole genomes with known sequence characteristics based on direct samplin
SUBMITTER: Killcoyne S
PROVIDER: S-EPMC4039316 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature