File description: geneCounts: gene-level counts k_j: split counts spanning from one exon to another. k_theta: non-split counts covering a splice site n_psi3: total split counts from a given acceptor site n_psi5: total split counts from a given donor site n_theta: total split and non-split counts for a given splice site Sample annotation describing each sample from the dataset Description file with global information from the dataset The gene counts were originated using the GTF file from release 34 of GENCODE https://www.gencodegenes.org/human/release_34, and the split and non-split counts contain only the annotated junctions from the same release. Use: The count matrices are intended to help researchers that are interested in using RNA-Seq data with the purpose of diagnostics. Researchers can merge their own dataset with the downloaded ones, provided the tissue, genome build, strand, and paired-end specifications match. Afterwards, the DROP can be used to compute expression and splicing outliers (https://github.com/gagneurlab/drop). Number of samples: 154 Tissue: Fibroblast Organism: Homo sapiens Genome assembly: hg19 Gene annotation: gencode34 Disease (ICD-10: N): E75: 1, E79: 13, E88: 118, G31: 9, K72: 3, NONE: 10 Strand specific: FALSE Paired end: TRUE Protocol: poly(A) enrichment Dataset contact: Vicente Yepez, yepez@in.tum.de; Julien Gagneur, gagneur@in.tum.de; Holger Prokisch, prokisch@helmholtz-muenchen.de Citation: Cite both the resource using Zenodo's citation and the publication under References

{"references": ["Y\u00e9pez, V. A., Gusic, M., Kopajtich, R., Mertes, C., et al. (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med 14, 38. doi: 10.1186/s13073-022-01019-9."]}