Personal-genomics endeavors, such as the 1000 Genomes project, are generating maps of genomic structural variants by analyzing ends of massively sequenced genome fragments. To process these we developed Paired-End Mapper (PEMer; http://sv.gersteinlab.org/pemer). This comprises an analysis pipeline, compatible with several next-generation sequencing platforms; simulation-based error models, yielding confidence-values for each structural variant; and a back-end database. The simulations demonstrated high structural variant reconstruction efficiency for PEMer's coverage-adjusted multi-cutoff scoring-strategy and showed its relative insensitivity to base-calling errors. © 2009 Korbel et al.; licensee BioMed Central Ltd.
CITATION STYLE
Korbel, J. O., Abyzov, A., Mu, X. J., Carriero, N., Cayting, P., Zhang, Z., … Gerstein, M. B. (2009). PEMer: A computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data. Genome Biology, 10(2). https://doi.org/10.1186/gb-2009-10-2-r23
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