Table 1 Five controls with previously reported diagnoses.
From: Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
ID | Variant | Rationale for selection as a control |
|---|---|---|
C1 | der (22), t (11;22) | Complex chromosomal rearrangement |
C2 | t (9;18) (q33;q21.2) | Translocation unable to be validated by Sanger sequencing |
C3 | Inv (8q13.3; 8q24.22) | Diagnostic inversion |
C4 | IKBKG: p.E222fs | NGS dead zone |
C5 | UPD Chr15 | Imprinting/methylation defect |
