RNA004 DRS METTL5 variant

RNA004 is a method for direct RNA sequencing (DRS) that holds promise to enhance the detection of modopathies. To this end, we provide DRS data for a patient sample harboring heterozygous inactivating SNPs for the methyltransferase METTL5, which modifies m6A on 18S rRNA. Companion datasets are 1) EGAS50000001201 for DRS of a healthy control with intact METTL5 and 2) PRJEB74238 for IVT 18S rRNA vector data as unmodified control.

Type: Transcriptome Analysis
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 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
EGAD50000001882	This dataset contains RNA004 DRS data for a single patient sample with heterozygous inactivating SNPs for the methyltransferase METTL5. We provide 1) all reads in a GRCh38 aligned bam file + unaligned reads and 2) filtered reads just for the relevant part of chrR. Both bam files have been called with dorado 0.7.2 to contain the neccessary m6A methylation information. Companion datasets are 1) EGAS50000001201 for DRS of a healthy control with intact METTL5 and 2) PRJEB74238 for IVT 18S rRNA vector data as unmodified control. Please note, that both the companion datasets contain pod5 data, to faciliate re-basecalling.	PromethION	1

Publications	Citations
Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications. Hewel C, Wierczeiko A, Miedema J, Friedrich J, Hofmann F, Weißbach S, Dietrich V, Holthöfer L, Haug V, Mündnich S, Schartel L, Lehmann L, Jensen KL, Diederich S, Sys S, Butto T, Paul NW, Koch J, Lyko F, Kraft F, Russo A, Schweiger S, Lemke EA, Helm M, Linke M, Gerber S. Nucleic Acids Res 53: 2025 gkaf1314	0

Publications

Citations

Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications.
Hewel C, Wierczeiko A, Miedema J, Friedrich J, Hofmann F, Weißbach S, Dietrich V, Holthöfer L, Haug V, Mündnich S, Schartel L, Lehmann L, Jensen KL, Diederich S, Sys S, Butto T, Paul NW, Koch J, Lyko F, Kraft F, Russo A, Schweiger S, Lemke EA, Helm M, Linke M, Gerber S. Nucleic Acids Res 53: 2025 gkaf1314