Gene expression and splicing counts from the Yepez, Gusic et al study - strand-specific
Creators
- 1. Technical University of Munich
Description
File description:
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geneCounts: gene-level counts
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k_j: split counts spanning from one exon to another.
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k_theta: non-split counts covering a splice site
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n_psi3: total split counts from a given acceptor site
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n_psi5: total split counts from a given donor site
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n_theta: total split and non-split counts for a given splice site
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Sample annotation describing each sample from the dataset
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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, DROP can be used to compute expression and splicing outliers (https://github.com/gagneurlab/drop).
Number of samples: 269
Tissue: Fibroblast
Organism: Homo sapiens
Genome assembly: hg19
Gene annotation: gencode34
Disease (ICD-10: N): E72: 4, E75: 2, E77: 1, E88: 199, F82: 1, F89: 7, G31: 14, G40: 2, G71: 3, G82: 1, G93: 2, I42: 1, K72: 4, NONE: 18, P94: 2, Q02: 1, Q78: 1, R16: 2, R27: 3, R29: 1
Strand specific: TRUE
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
Files
Files
(310.2 MB)
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Additional details
References
- Yepez, V. A., Gusic, M., Kopajtich, R., Mertes, C., et al. (2021). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. medRxiv. doi:10.1101/2021.04.01.21254633.