Chameleolyser Data Access Commitee

christian.gilissen@radboudumc.nl

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Dataset ID	Description	Technology	Samples
EGAD00001011305	As part of the study "Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation" we wanted to identiffy the SNVs that are located in STRC and which ones in STRCP1. For this we applied targeted long-read sequencing.	Ion Torrent Proton	7
EGAD00010002806	The PacBio control dataset for differential methylation analysis included 39 control samples without methylation disorders. All samples were sequenced using PacBio RevioÂ® HiFi reads at a matched coverage of 15X, and methylation was called using pb-cpg-tools on aligned BAM files.	Pacbio	39
EGAD00010002807	The PacBio cases dataset for differential methylation analysis included 10 case samples with known KMT2A loss-of-function variants, 2 VUS samples. All samples were sequenced using PacBio RevioÂ® HiFi reads at a matched coverage of 15X, and methylation was called using pb-cpg-tools on aligned BAM files.	Pacbio	14