TABLE 4.
Clinical validation of pathogenic Structural Variant (SV) detection with long read sequencing.
| Sample | Diagnosis | Genotype | Confirmed by ONT Long Reads |
|---|---|---|---|
| Sample_4 | Chung-Jansen syndrome | 67 bp Deletion in 6q14.1q14.1, Heterozygous | Confirmed |
| NA06047 | Miller-Dieker Lissencephaly Syndrome | arr[hg19]17p13.3p13.2(513–5766286)x1 | Confirmed |
| Sample_5 | 1q21.1 recurrent microdeletion | seq[GRCh38] del(1) (q21.1q21.2) NC_000001.11:g.(146047300_146502700)_(148426300_148816800) del | Confirmed |
| NA04372 | Krabbe disease | chr14q31.3q31.3x1(87,925,162–87,956,828); 33.75 kb | Confirmed |
| NA05123 | Muscular Dystrophy, Duchenne Type; DMD Dystrophin | DMD exon 45–62 duplication; >800,000 | Confirmed |
| Sample_6 | Dystrophinopathy Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD associated dilated cardiomyopathy | 105.13 kb deletion in Xp21.1p21.1 | Confirmed |
| Heterozygous | |||
| Sample_7 | Klinefelter syndrome and 17q12 deletion syndrome | Klinefelter syndrome 47 XXY | Confirmed both variants |
| ∼2 Mb Deletion in 17q12q12 | |||
| Heterozygous | |||
| Sample_8 | Partial trisomy 19 | 15.07 Mb Duplication in 19p13.12q12 | Confirmed |
| Heterozygous | |||
| Sample_9 | SATB2-associated syndrome | 17.86 Mb Inversion at 2q31.3q33.1 | Confirmed |
| Heterozygous | |||
| Sample_10 | 48, XXYY syndrome; Ichthyosis vulgaris, Susceptibility to atopic dermatitis | 48, XXYY syndrome | Confirmed |
| Sample_11 | Recurrent 16p11.2 microdeletion syndrome | Heterozygous, pathogenic deletion of approximately 322.5 kb within the distal region of chromosome 16p11.2 | Confirmed |
| Sample_13 | Leri-Weill dyschondrosteosis | ∼1.9 Mb deletion in Xp22.33p22.33 | Confirmed |
| Short stature; Langer mesomelic dysplasia | Heterozygous | ||
| Sample_15 | Mulchandani–Bhoj–Conlin syndrome | Maternal UPD of chromosome 20 (UPD(20)mat) | Confirmed |
| NA11601 | Neurofibromatosis, type I; NF1 | Insertion of an Alu element close to exon 6 of NF1 | Confirmed |
| NA13805 | Ataxia-telangiectasia; ATM | ATM_c.935_936insAlu (p.Leu312fs) | Confirmed |