Table 1 Selection of OGM findings for Cas9-directed long-read sequencing.
ID | Referral reason | OGM (splitted per aberration) | SOC | Identified with SOC | Detection problem |
|---|---|---|---|---|---|
BMA1 | AML/MDS/MPN | ogm[GRCh37]1q21.1q21.1(144452084_249237532) × 2 ~ 3 | Karyotyping | Yes | |
BMA2 | CML | ogm[GRCh37]t(9;22)(q34;q11.2)(133619362_23603312) | Karyotyping | Yes | |
BMA8 | CML | ogm[GRCh37]t(9;22)(q34;q11.2) | Karyotyping | Yes | |
BMA16 | HCL (CLL) | ogm[GRCh37](X) × 1,(1–22) × 2 | Karyotyping | Yes | |
BMA16 | HCL (CLL) | ogm[GRCh37]t(8;8)(p22;q13.2)(15.548.752;69.835.790) | Karyotyping (1:250 metaphases) | Yes | |
BMA15 | MDS/AML | ogm[GRCh37]t(5;5)(q14.2;q33.3)(81.692.066;159.453.630) | Karyotyping, SNP-arrays | Yes | |
BMA8 | CML | ogm[GRCh37]22q11.23;q12.1)(23,734,214;29,424,129) × 1 | SNP-arrays | Yes | |
BMA9 | MDS | ogm[GRCh37]chr21 × 3 | SNP-arrays | Yes | |
BMA10 | MDS/MPN | ogm[GRCh37]9p24.3p13.3(1_35889394) × 2 hmz | SNP-arrays | Yes | |
BMA10 | MDS/MPN | ogm[GRCh37]14q11.2q12(20421719_32361050) × 1 | SNP-arrays | Yes | |
BMA12 | (B)-CLL | ogm[GRCh37]chr12 × 3 | SNP-arrays | Yes | |
BMA13 | MDS | ogm[GRCh37] 20q11.22q13.13(34259243_49502193) × 1 | SNP-arrays | Yes | |
BMA16 | HCL (CLL) | ogm[GRCh37]8p23.3p22(11805_15540773) × 1 ~ 2 | SNP-arrays | Yes | |
BMA1 | AML/MDS/MPN | ogm[GRCh37]17p13.1(7,545,377_7,588,071) × 1 | Could not be confirmed | No | Aberration located in between 2 OGM labels |
BMA3 | AML/MDS | ogm[GRCh37]17p13.1(7,545,377_7,588,071) × 1 | Could not be confirmed | No | Aberration located in between 2 OGM labels |
BMA6 | MDS | ogm[GRCh37]17p13.1(7,545,377_7,588,071) × 1 | Could not be confirmed | No | Aberration located in between 2 OGM labels |
BMA17 | MDS | ogm[GRCh37]ins(12p13.2)(11,889,007_11,895,594) | Could not be confirmed | No | Aberration located in between 2 OGM labels |
BMA16 | HCL (CLL) | ogm[GRCh37]t(14;17)(q32.22;q25.3) (106,249,815;80,915,618) | Could not be confirmed | No | Disputable breakpoint |
BMA7 | MDS/MF | ogm[GRCh37]inv(3)(q25.33q26.2)(160,014,744_168,882,939) | Could not be confirmed | No | Resolution SOC too low |
BMA7 | MDS/MF | ogm[GRCh37]3q25.33(159,902,689–160,014,744) × 1 | Could not be confirmed | No | Resolution SOC too low |
BMA7 | MDS/MF | ogm[GRCh37]3q26.2(168,882,939–168,907,480) × 1 | Could not be confirmed | No | Resolution SOC too low |
BMA9 | MDS | ogm[GRCh37]inv(15)(q24.1q24.1)(72,959,741_74,362,190) | Could not be confirmed | No | Resolution SOC too low |
BMA9 | MDS | ogm[GRCh37]3p13(71086423_71375386) × 1 | Could not be confirmed | No | Resolution SOC too low |
