URL: https://github.com/brentp/duphold
Proper Citation: duphold (RRID:SCR_016938)
Description: Software tool to annotate structural variant calls with sequence depth information that can add or remove confidence to SV predicted to affect copy number. Indicates the presence of a rapid change in depth relative to the regions surrounding the breakpoints. Allows the run time to be nearly independent of the number of variants important for large, jointly called projects with many samples. Annotates structural variant predictions made from both short read and long read data.
Resource Type: data analysis software, software application, software resource, data processing software
Keywords: annotate, structural, variation, call, sequence, depth, confidence, predict, copy, number, short, long, read, data
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