Performance testing on a clinical case data:
ROHMM ’s performance on a clinical case was tested on the sample published by Pippucci and colleagues (Pippucci et al., 2013). Raw sequencing data was downloaded from the repository indicated in the publication (Pippucci et al., 2013). Raw reads were quality checked and mapped onto GRCh37 according to the GATK best practices (Van der Auwera et al., 2013). Variant calling and filtering were done using GATK 4.0.ROHMM ’s and H3M2’s results were compared side by side for the concordance of ROH calls.