Table 2 Summary of quality control measures of OGM and ONT.

From: Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

BMA

Aberration OGM

Self-molecules

V.A.F

Number of reads crossing junction

Number

OGM

OGM##

ONT

BMA1

ogm[GRCh37]17p13.1(7,545,377_7,588,071) × 1

48

–

10

BMA3

ogm[GRCh37]17p13.1(7,545,377_7,588,071) × 1

67

–

1

BMA6

ogm[GRCh37]17p13.1(7,545,377_7,588,071) × 1

54

–

4

BMA17

ogm[GRCh37]ins(12p13.2)(11,889,007_11,895,594)

62

0.50

25

BMA16

ogm[GRCh37]t(14;17)(q32.22;q25.3)(106,249,815;80,915,618)

17

0.36

4

BMA7

ogm[GRCh37]inv(3)(q25.33q26.2)(160,014,744_168,882,939)

50

–

6, 19

BMA7

ogm[GRCh37]3q25.33(159,902,689–160,014,744) × 1

50

–

6

BMA7

ogm[GRCh37]3q26.2(168,882,939–168,907,480) × 1

50

–

19

BMA9

ogm[GRCh37]3p13(71,086,423_71,375,386) × 1

7

0.03

1

BMA9

ogm[GRCh37]inv(15)(q24.1q24.1)(72,959,741_74,362,190)#

48

0.32

R.O. 91, F.O. 17###

  1. For each OGM aberration, OGM self-molecules, OGM variant allele frequency’s and ONT reads crossing the junction are depicted in this QC summary.
  2. BMA, bone marrow aspirates; VAF, variant allele frequency; OGM, optical genome mapping; ONT, Oxford Nanopore Technologies; RO, reverse orientated; FO, forward orientated.
  3. #ONT redefined OGM-call.
  4. ##Version 1.6 Access software, no V.A.F. information.
  5. ###Reverse and forward orientated adapter, not crossing junctions.
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