Published July 28, 2020 | Version v1

Gene expression counts from blood, strand-specific, BCM UDN

  • 1. Technical University of Munich
  • 2. Baylor College of Medicine

Description

File description:

  1. Gene-level counts using the gtf file from the release 34 of GENCODE https://www.gencodegenes.org/human/release_34

  2. Split counts spanning from one exon to another using an annotation-free algorithm, therefore capturing new splice sites

  3. Non-split counts covering exon-intron boundaries

  4. Sample annotation describing each sample from the dataset

  5. Description file with global information from the dataset

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 pipeline can be used to compute expression and splicing outliers (https://github.com/gagneurlab/drop).

Maintainer: Vicente A. Yépez, yepez@in.tum.de

URL: https://github.com/gagneurlab/drop/
 

Title: BCM UDN Whole Blood
Number of samples: 125
Tissue: Peripheral blood
Organism: Homo sapiens
Genome assembly: hg19
Gene annotation: gencode34
Disease (ICD-10: N): : 1, D84: 10, E34: 2, H57: 1, K92: 4, M25: 17, NONE: 53, Q20: 3, Q33: 2, Q89: 6, R62: 26
Strand specific: TRUE
Paired end: TRUE
Protocol: poly(A) enrichment, no globin depletion
Dataset contact: David Murdock, david.murdock@bcm.edu

Citation: Cite both the resource using Zenodo's citation and the publication under References

Files

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Additional details

References

  • Murdock, D. R. et al. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. JCI 131, e141500 (2021).