Table 4.
Summary of variant types in 103 participants.
| Type of variant | # of samples | # of variants | Relevant genes | Detection |
|---|---|---|---|---|
| SNV/Trinucleotide expansion | 6 | 6 | CYP21A21, IKBKG2 PAH1, PARMS3, VPS33B1 | Failure |
| Single Nucleotide Variation (SNV, AD, AR-homo) | 54 | 57 | Success | |
| Compound heterozygote | 13½ 4 | 27 | ABCA12, ACADM, AGL, PRODH, ARSA, ATP7B, GALC, GBA, HEXA, MCCC1, PAH, PKHD1, VPS33B | Success |
| Copy Number variation (CNV) | 7½4 | 8 | PRODH, BTK, DMD, MECP2, PMP22, STS | Success |
| Carrier (het, inheritance type = AR) | 10 | 10 | ATP7B, BTK, GALT, GBA, HBB, IVD, LMNA, MCCC2, PRODH, SLC22A5 | Success |
| Negative control | 12 | 13 | ABCC8, ACADS, ALPL, CFTR, CYP21A2, GALC, GALT, GJB2, GJB2, NF1, OTC, PMP22, VHL | Success |
| Total number | 103 | 121 | ||
| Predefined variant | 121 | |||
| Correct answer | 115 | |||
| Incorrect answer | 22 | 6 | ||
| Analytical sensitivity | 95% | 115/121 |
1Variants in introns were detected by TNGS, but excluded from disease calling due to ambiguity of their biological roles. 2Read depth was zero for IKBKG. 3Repeat expansion from 20 to 25 was not detected. 4Patient number seven was a heterozygote with two types of variants.