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.