Optical genome mapping enables accurate testing of large repeat expansions

Table 2.

Overview of repeat expansions with different calls for absolute repeat size

Sample ID SOC Manual de novo assembly Local guided assembly
Allele 1 Allele 2 Allele 1 Allele 2 Allele 1 Allele 2
DMPK_06 127 5 64 64 82 81
DMPK_08 91 5 67 67 49 wt
DMPK_09 96–130 5 71 71 68 wt
DMPK_16 >150 12 85 85 52 wt
DMPK_18 >150 5 71 71 69 wt
DMPK_19 73 12 54 54 61 0
DMPK_20 >150 5 55 55 41 wt
DMPK_22 74 13 31 31 61 6
DMPK_24 130 5 82 82 93 78
DMPK_25 159 5 79 79 109 63

  • Repeat sizes represent repeat units.

This Article

  1. Published in Advance March 20, 2025, doi: 10.1101/gr.279491.124 Genome Res. 35: 810-823

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