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Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

Type: Epigenetics
Archiver: European Genome-phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
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

Publications	Citations
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing. Ivashchenko V, de Groot M, Derks R, den Ouden A, Khazeeva G, van den Heuvel S, Timmermans R, Corominas Galbany J, Pfundt R, Hofste T, Yntema H, Vissers L, Hoischen A, Hampstead J, Gilissen C. Genome Med 18: 2026 11	1