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SomaticSniper: identification of somatic point mutations in whole genome sequencing data
<span title="2011-12-06">2011</span>
<i title="Oxford University Press (OUP)">
<a target="_blank" rel="noopener" href="https://fatcat.wiki/container/4r72gbmtcrde5no3fwwogjs3cu" style="color: black;">Computer applications in the biosciences : CABIOS</a>
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Motivation: The sequencing of tumors and their matched normals is frequently used to study the genetic composition of cancer. Despite this fact, there remains a dearth of available software tools designed to compare sequences in pairs of samples and identify sites that are likely to be unique to one sample. Results: In this article, we describe the mathematical basis of our SomaticSniper software for comparing tumor and normal pairs. We estimate its sensitivity and precision, and present
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<a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1093/bioinformatics/btr665">doi:10.1093/bioinformatics/btr665</a>
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... common sources of error resulting in miscalls. Availability and implementation: Binaries are freely available for download at
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