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. 2014 Feb 7;9(2):e88410. doi: 10.1371/journal.pone.0088410

Table 5. Comparison of efficiencies of different methods for RD molecular diagnosis.

N° Genes analyzed Yield Reference
APEX 1-16 15-44% [44, 54]
Long-PCR 9 33% [43]
Autozygome 16-100 42-52% [48, 55]
Target Capture 105-179 36-56% [11, 44-47, 56]
WES All 44-83%* [43, 48, 49, 57]
WGS All 50% [10]
RD-chip 100 47% This study

*Higher efficiency percentages are obtained when few families or cases are analysed.