OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

Table 2.

Simulated nonterminal SV edge recall by event types

Simulated nonterminal SV edge type Low complexity simulated/identified High complexity simulated/identified
Deletion 74/70 (94.6%) 12/11 (91.7%)
Inversion 100/96 (96.0%) 18/18 (100.0%)
Duplication inversion 94/93 (98.9%) 52/45 (86.5%)
Tandem duplication 56/50 (89.3%) 18/14 (77.8%)
Transposition 90/85 (94.4%) 97/88 (90.7%)
Balanced reciprocal translocation 88/88 (100.0%) 140/125 (89.3%)

This Article

  1. Genome Res. 35: 2671-2681

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