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Notes on the RNAsum Rmd structure for developers

ref_dataset.list

Processed data with following elements:

Element Description
[[dataset]][["combined_data"]] combined read count data (ref + sample datasets) (combineDatasets output in chunk load_ref_data)
[[dataset]][["sample_annot"]] combined data samples annotation (“combineDatasets()” output in chunk “load_ref_data”)
[[dataset]][["clinical_info"]] clinical (survival + treatment) info
[[dataset]][["combined_data_processed"]] transformed, filtered and normalised data (chunks “data_transformation” and “data_normalisation”)
[[dataset]][["batch_effect_corrected"]] transformed, filtered, normalised and batch effect corrected data (chunk “batch_effect_correction”)
[[dataset]][["pca_combined_data_processed"]] PCA results for combined data
[[dataset]][["pca_batch_effect_corrected"]] PCA results for batch-effect corrected data
[[dataset]][["rle_combined_data_processed"]] RLE plot for combined data
[[dataset]][["rle_batch_effect_corrected"]] RLE plot for batch-effect corrected data
[[dataset]][["data_to_report"]] fully combined and processed data for reporting
[[dataset]][["gene_annot_all"]] gene annotation for combined read count data, containing all input genes. Includes SYMBOL, GENEBIOTYPE, ENSEMBL, SEQNAME, GENESEQSTART, and GENESEQEND. ENSEMBL is used for rownames.
[[dataset]][["gene_annot"]] gene annotation for transformed, filtered and normalised data. Includes SYMBOL, GENEBIOTYPE, ENSEMBL, SEQNAME, GENESEQSTART, GENESEQEND. SYMBOL is used for rownames.
[[dataset]][["expr_mut_cn_data_all"]] combined expression, mutation and CN data.
[[dataset]][["expr_mut_cn_data"]] combined expression, mutation and CN data limited to cancer genes that meet user-defined CN values threshold.

ref_genes.list

Genes of interest with following gene sets:

Element Description
[["genes_cancer"]] list of cancer genes derived from UMCCR Cancer Gene list (https://github.com/vladsaveliev/NGS_Utils/blob/master/ngs_utils/reference_data/key_genes/umccr_cancer_genes.2019-03-20.tsv) and OncoKB portal (http://oncokb.org/#/cancerGenes)
[["genes_oncokb"]] list of cancer genes derived from OncoKB only (although genes present in the UMCCR panel are also flagged)
[["genes_immune"]] list of immune reponse markers provided in the “An Immunogram for the Cancer-Immunity Cycle” paper by Karasaki at al (2017) (https://www.ncbi.nlm.nih.gov/pubmed/28088513) and OmniSeq report (https://www.omniseq.com/)
[["genes_hrd"]] list of hrd genes
[["pcgr"]] list and PCGR annotation of indels
[["purple"]] list and PURPLE annotation of CN altered genes
[["manta"]] list and Manta annotation of SVs
[["arriba"]] list and Arriba annotation of gene fusion events
[["pizzly"]] list and Pizzly annotation of gene fusion events
[["summary"]] summary of above-mentioned gene lists, also used for expression summary tables and plots.