Sample | CNV candidates after scoringa | Selected pathogenic CNVsc | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Panel | Sample | Median read depth | Raw CNVb | Score 5 | Score 4 | Score 3 | Score 2 | Score 1 | Score 0 | Gene | NM | CNV | CNV size (kb) | Confirmed by qPCR |
IMD_HYB | Case_01 | 273.3 | 49 | 2 | 22 | 20 | 5 | 0 | 0 | ACADVL | NM_000018 | EX2 DEL (Score 4) | 0.08 | Failed |
Case_02 | 341.4 | 12 | 7 | 3 | 2 | 0 | 0 | 0 | ASL | NM_000048 | EX15 DEL (Score 5) | 0.08 | Confirmed | |
Case_03 | 276.8 | 25 | 5 | 18 | 2 | 0 | 0 | 0 | GYS2 | NM_021957 | EX6–11 DEL (Score 5) | 5.15 | Partially confirmed (EX6–7, 10–11) | |
IMD_PCR | Case_04 | Pool 1: 174.0 Pool 2: 203.0 Pool 3: 185.0 | 82 | 26 | 46 | 9 | 1 | 0 | 0 | ETFDH | NM_004453 | EX1–7 DEL (Score 5) | 23.51 | Confirmed |
Case_05 | Pool 1: 228.0 Pool 2: 330.0 Pool 3: 185.0 | 145 | 63 | 74 | 8 | 0 | 0 | 0 | ETFDH | NM_004453 | EX7–8 DEL (Score 5) | 2.20 | Confirmed | |
IMD_V1 | Case_06 | Pool 1: 69.0 Pool 2: 56.0 | 106 | 37 | 40 | 26 | 3 | 0 | 0 | OTC | NM_000531 | EX2 DEL (Score 5) | 0.14 | Confirmed |
Case_07 | Pool 1: 52.0 Pool 2: 51.0 | 65 | 23 | 23 | 14 | 5 | 0 | 0 | OTC | NM_000531 | Entire gene DEL (Score 5) | 68.38 | Confirmed |