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Table 1 Summary of in vitro validation of novel SV calls

From: FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods

  Validated Not validated Min size (bp) Max size (bp) Validation rate (%) Methods
DEL 31 5 401 13,572 86.1 PCR/ddPCR
DUP 27 3 1897 30,370 90.0 ddPCR
INV 7 2 141 1568 77.8 PCR/Sanger sequencing/PacBio
  1. DEL deletions, DUP duplications, INV inversions
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Genome Biology

ISSN: 1474-760X

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