Table 2.

Overview of repeat expansions with different calls for absolute repeat size

Sample IDSOCManual de novo assemblyLocal guided assembly
Allele 1Allele 2Allele 1Allele 2Allele 1Allele 2
DMPK_06127564648281
DMPK_08915676749wt
DMPK_0996–1305717168wt
DMPK_16>15012858552wt
DMPK_18>1505717169wt
DMPK_1973125454610
DMPK_20>1505555541wt
DMPK_2274133131616
DMPK_24130582829378
DMPK_251595797910963

[i] Repeat sizes represent repeat units.