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README.md

Analysis Modules

This directory contains various analysis modules in the OpenPBTA project. See the README of an individual analysis modules for more information about that module.

Modules at a glance

The table below is intended to help project organizers quickly get an idea of what files (and therefore types of data) are consumed by each analysis module, what the module does, and what output files it produces that can be consumed by other analysis modules. This is in service of documenting interdependent analyses. Note that nearly all modules use the harmonized clinical data file (histologies.tsv) even when it is not explicitly included in the table below.

Module Input Files Brief Description Output Files Consumed by Other Analyses Modules Consume Outputs OT compatibility In Use Run Platform Action Plan
chromosomal-instability histologies.tsv
sv-manta.tsv.gz
cnv-cnvkit.seg.gz
Evaluates chromosomal instability by calculating chromosomal breakpoint densities and by creating circular plot visuals breakpoint-data/union_of_breaks_densities.tsv molecular-subtyping-EPN No No N/A Will Adapt for OT
chromothripsis sv-manta.tsv.gz
cnv-consensus.seg.gz
independent-specimens.wgs.primary-plus.tsv
chromothripsis analysis per #1007 N/A N/A No No N/A N/A
cnv-chrom-plot cnv-consensus-gistic.zip
cnv-consensus.seg
Plots genome wide visualizations relating to copy number results N/A N/A No No N/A N/A
cnv-comparison Earlier version of SEG files Deprecated; compared earlier version of the CNV methods. N/A N/A No No N/A N/A
cnv-frequencies histologies.tsv
consensus_wgs_plus_cnvkit_wxs.tsv.gz
independent-specimens.wgswxspanel.primary.eachcohort.tsv
independent-specimens.wgswxspanel.relapse.eachcohort.tsv
independent-specimens.wgswxspanel.primary.tsv
independent-specimens.wgswxspanel.relapse.tsv
Annotate CNV table with mutation frequencies results/gene-level-cnv-consensus-annotated-mut-freq.jsonl.gz
results/gene-level-cnv-consensus-annotated-mut-freq.tsv.gz
Upload to FNL BOX Yes Yes GitHub N/A
collapse-rnaseq gene-expression-rsem-tpm.rds
gencode.v27.primary_assembly.annotation.gtf.gz
Collapses RSEM FPKM matrices such that gene symbols are de-duplicated. results/gene-expression-rsem-fpkm-collapsed.rds (included in data download; too large for tracking via GitHub)
N/A Yes Yes CAVATICA N/A
comparative-RNASeq-analysis gene-expression-rsem-tpm.rds
histologies.tsv
mend-qc-manifest.tsv
mend-qc-results.tar.gz
In progress; will produce expression outlier profiles per #229 N/A N/A No No N/A N/A
compare-gistic cnv-consensus-gistic.zip
analyses/run-gistic/results/cnv-consensus-hgat-gistic.zip
analyses/run-gistic/results/cnv-consensus-lgat-gistic.zip
analyses/run-gistic/results/cnv-consensus-medulloblastoma-gistic.zip
Comparison of the GISTIC results of the entire cohort with the GISTIC results of three individual histolgies, namely, LGAT, HGAT and medulloblastoma (#547 N/A N/A No No N/A N/A
copy_number_consensus_call cnv-cnvkit.seg.gz
cnv-controlfreec.tsv.gz
sv-manta.tsv.gz
Produces consensus copy number calls per #128 and a set of excluded regions where CNV calls are not made results/cnv_consensus.tsv
results/cnv-consensus.seg.gz (included in data download)
ref/cnv_excluded_regions.bed
ref/cnv_callable.bed
focal-cn-file-preparation
run-gistic
Yes Yes CAVATICA N/A
create-subset-files All files This module contains the code to create the subset files used in continuous integration All subset files for continuous integration All No No N/A Will set up for OT (ticket in)
focal-cn-file-preparation cnv-cnvkit.seg.gz
cnv-controlfreec.tsv.gz
gene-expression-rsem-tpm-collapsed.rds
cnv-consensus.seg.gz
Maps from copy number variant caller segments to gene identifiers; will be updated to take into account changes that affect entire cytobands, chromosome arms (#186) results/cnvkit_annotated_cn_wxs_autosomes.tsv.gz
results/cnvkit_annotated_cn_wxs_x_and_y.tsv.gz
results/consensus_seg_annotated_cn_autosomes.tsv.gz
results/consensus_seg_annotated_cn_x_and_y.tsv.gz
results/consensus_wgs_plus_cnvkit_wxs.tsv.gz (included in data download)
results/consensus_wgs_plus_cnvkit_wxs_autosomes.tsv.gz (included in data download)
results/consensus_wgs_plus_cnvkit_wxs_x_and_y.tsv.gz (included in data download)
molecular-subtyping-ATRT
molecular-subtyping-chordoma
molecular-subtyping-embryonal
molecular-subtyping-HGG
cnv-frequencies
Yes Yes CAVATICA N/A
fusion_filtering fusion-arriba.tsv.gz
fusion-starfusion.tsv.gz
independent-specimens.rnaseq.primary.tsv
independent-specimens.rnaseq.relapse.tsv
Standardizes, filters, and prioritizes fusion calls results/fusion-putative-oncogenic.tsv(included in data download)
results/fusion-recurrent-fusion-bycancergroup.tsv
results/fusion-recurrent-fusion-bysample.tsv
results/fusion-recurrently-fused-genes-bycancergroup.tsv
results/fusion-recurrently-fused-genes-bysample.tsv
fusion-summary
fusion-frequencies
molecular-subtyping-HGG
molecular-subtyping-LGAT
oncoprint-landscape
pedot-table-column-display-order-name
Yes Yes GitHub N/A
fusion-summary histologies.tsv
fusion-putative-oncogenic.tsv
fusion-arriba.tsv.gz
fusion-starfusion.tsv.gz
Generate summary tables from fusion files (#398; #623) results/fusion_summary_embryonal_foi.tsv
results/fusion_summary_ependymoma_foi.tsv
results/fusion_summary_ewings_foi.tsv
molecular-subtyping-EPN
molecular-subtyping-EWS
molecular-subtyping-embryonal
Yes Yes GitHub N/A
fusion-frequencies fusion-putative-oncogenic.tsv
independent-specimens.rnaseq.primary.eachcohort.tsv
independent-specimens.rnaseq.relapse.eachcohort.tsv
Gather counts and frequencies for fusion per cancer_group and cohort results/putative-oncogene-fused-gene-freq.jsonl.gz
results/putative-oncogene-fused-gene-freq.tsv.gz
results/putative-oncogene-fusion-freq.jsonl.gz
results/putative-oncogene-fusion-freq.tsv.gz
Upload to FNL BOX Yes Yes GitHub N/A
gene-set-enrichment-analysis gene-expression-rsem-tpm-collapsed.rds Updated gene set enrichment analysis with appropriate RNA-seq expression data results/gsva_scores.tsv
combined file for all RNA library types
molecular-subtyping-ATRT
molecular-subtyping-EPN
Yes Yes GitHub Move to CAVATICA
hotspot-detection snv-strelka2.vep.maf.gz
snv-mutect2.vep.maf.gz
snv-vardict.vep.maf.gz
snv-lancet.vep.maf.gz
Scavenges cancer any hotspot calls from each caller and merges with consensus (3/3) calls if it was missed in snv-caller workflow. snv-hotspots-mutation.maf.tsv.gz snv-caller No No CAVATICA N/A
immune-deconv gene-expression-rsem-tpm-collapsed.rds Immune/Stroma characterization across PBTA (part of #15) results/deconv-output.RData N/A No No N/A N/A
independent-samples histologies.tsv Generates independent specimen lists for WGS/WXS samples results/independent-specimens.wgswxspanel.primary.tsv (included in data download)
results/independent-specimens.wgswxspanel.relapse.tsv (included in data download)
results/independent-specimens.wgswxspanel.primary.eachcohort.tsv (included in data download)
results/independent-specimens.wgswxspanel.relapse.eachcohort.tsv (included in data download)
results/independent-specimens.wgswxspanel.primary.prefer.wxs.tsv (included in data download)
results/independent-specimens.wgswxspanel.relapse.prefer.wxs.tsv (included in data download)
results/independent-specimens.wgswxspanel.primary.eachcohort.prefer.wxs.tsv (included in data download)
results/independent-specimens.wgswxspanel.relapse.eachcohort.prefer.wxs.tsv (included in data download)
results/independent-specimens.rnaseq.primary.tsv (included in data download)
results/independent-specimens.rnaseq.relapse.tsv (included in data download)
results/independent-specimens.rnaseq.primary.eachcohort.tsv (included in data download)
results/independent-specimens.rnaseq.relapse.eachcohort.tsv (included in data download)
interaction-plots
oncoprint-landscape
chromothripsis
cnv-frequencies
fusion-filtering
fusion-frequencies
snv-frequencies
rna-seq-expression-summary-stats
Yes Yes GitHub N/A
interaction-plots independent-specimens.wgs.primary-plus.tsv
snv-consensus-mutation.maf.tsv.gz
Creates interaction plots for mutation mutual exclusivity/co-occurrence #13; may be updated to include other data types (e.g., fusions) N/A N/A No No N/A N/A
long-format-table-utils ensg-hugo-rmtl-mapping.tsv
analyses/fusion_filtering/references/genelistreference.txt
efo-mondo-map.tsv
uberon-map-gtex-group.tsv
uberon-map-gtex-subgroup.tsv
Functions and scripts for handling long-format tables annotator/annotation-data/ensg-gene-full-name-refseq-protein.tsv
annotator/annotation-data/oncokb-cancer-gene-list.tsv
snv-frequencies
cnv-frequencies
fusion-frequencies
rna-seq-expression-summary-stats
Yes Yes GitHub N/A
molecular-subtyping-ATRT analyses/gene-set-enrichment-analysis/results/gsva_scores.tsv
gene-expression-rsem-tpm-collapsed.rds
analyses/focal-cn-file-preparation/results/consensus_seg_annotated_cn_autosomes.tsv.gz
snv-consensus-mutation-tmb-all.tsv
cnv-consensus-gistic.zip
Deprecated; Summarizing data into tabular format in order to molecularly subtype ATRT samples #244; this analysis did not work N/A N/A No No N/A N/A
molecular-subtyping-CRANIO histologies-base.tsv
snv-consensus-plus-hotspots.maf.tsv.gz
Molecular subtyping of craniopharyngiomas samples #810 results/CRANIO_molecular_subtype.tsv molecular-subtyping-pathology No No N/A Prepare for scaling
molecular-subtyping-EPN histologies-base.tsv
gene-expression-rsem-tpm-collapsed.rds
analyses/chromosomal-instability/breakpoint-data/union_of_breaks_densities.tsv
analyses/fusion-summary/results/fusion_summary_ependymoma_foi.tsv
analyses/gene-set-enrichment-analysis/results/gsva_scores.tsv
molecular subtyping of ependymoma tumors results/EPN_all_data_withsubgroup.tsv molecular-subtyping-pathology No No N/A Will Adapt for OT
molecular-subtyping-EWS histologies-base.tsv
analyses/fusion-summary/results/fusion_summary_ewings_foi.tsv
Reclassification of tumors based on the presence of defining fusions for Ewing Sarcoma per #623 results/EWS_samples.tsv molecular-subtyping-pathology No No N/A Will Adapt for OT
molecular-subtyping-HGG histologies-base.tsv
snv-consensus-plus-hotspots.maf.tsv.gz
consensus_wgs_plus_cnvkit_wxs.tsv.gz
fusion-putative-oncogenic.tsv
cnv-consensus-gistic.zip
gene-expression-rsem-tpm-collapsed.rds
tp53_altered_status.tsv
Molecular subtyping of high-grade glioma samples #249 results/HGG_molecular_subtype.tsv molecular-subtyping-pathology Yes Yes GitHub N/A
molecular-subtyping-LGAT histologies-base.tsv
snv-consensus-plus-hotspots.maf.tsv.gz
fusion-putative-oncogenic.tsv
analyses/fusion_filtering/results/fusion-recurrently-fused-genes-bysample.tsv
Molecular subtyping of Low-grade astrocytic tumor samples #631 results/lgat_subtyping.tsv molecular-subtyping-pathology Yes Yes GitHub N/A
molecular-subtyping-MB histologies.tsv
gene-expression-rsem-tpm-collapsed.rds
Molecular classification of Medulloblastoma subtypes (part of #116) results/MB_molecular_subtype.tsv molecular-subtyping-pathology Yes Yes GitHub N/A
molecular-subtyping-SHH-tp53 histologies
snv-consensus-plus-hotspots.maf.tsv.gz
Deprecated; Identify the SHH-classified medulloblastoma samples that have TP53 mutations #247 N/A N/A No No N/A N/A
molecular-subtyping-chordoma analyses/focal-cn-file-preparation/results/consensus_seg_annotated_cn_autosomes.tsv.gz
gene-expression-rsem-fpkm-collapsed.stranded.rds
identifying poorly-differentiated chordoma samples per #250 N/A N/A No No N/A Will Adapt for OT
molecular-subtyping-embryonal histologies-base.tsv
analyses/fusion-summary/fusion_summary_embryonal_foi.tsv
sv-manta.tsv.gz
consensus_wgs_plus_cnvkit_wxs.tsv.gz
analyses/focal-cn-file-preparation/cnvkit_annotated_cn_x_and_y.tsv.gz
analyses/focal-cn-file-preparation/controlfreec_annotated_cn_x_and_y.tsv.gz
gene-expression-rsem-tpm-collapsed.rds
Molecular subtyping of non-medulloblastoma, non-ATRT embryonal tumors #251 results/embryonal_tumor_molecular_subtypes.tsv molecular-subtyping-pathology No No N/A Will Adapt for OT
molecular-subtyping-integrate histologies-base.tsv
results/compiled_molecular_subtypes_with_clinical_pathology_feedback.tsv
Add molecular subtype information to base histology results/histologies.tsv data release Yes Yes GitHub N/A
molecular-subtyping-neurocytoma histologies-base.tsv Molecular subtyping of Neurocytoma samples #805 results/neurocytoma_subtyping.tsv molecular-subtyping-pathology No No N/A Will Adapt for OT
molecular-subtyping-pathology analyses/molecular-subtyping-CRANIO/results/CRANIO_molecular_subtype.tsv
analyses/molecular-subtyping-EPN/results/CRANIO_molecular_subtype.tsv
analyses/molecular-subtyping-MB/results/MB_molecular_subtype.tsv
analyses/molecular-subtyping-neurocytoma/results/neurocytoma_subtyping.tsv
analyses/molecular-subtyping-EWS/results/EWS_samples.tsv
analyses/molecular-subtyping-HGG/results/HGG_molecular_subtype.tsv
analyses/molecular-subtyping-LGAT/results/lgat_subtyping.tsv
analyses/molecular-subtyping-embryonal/results/embryonal_tumor_molecular_subtypes.tsv
Compile output from other molecular subtyping modules and incorporate pathology feedback #645 results/compiled_molecular_subtyping_with_clinical_feedback.tsv
results/compiled_molecular_subtypes_with_clinical_pathology_feedback.tsv
molecular-subtyping-integrate Yes Yes GitHub N/A
mutational-signatures snv-consensus-plus-hotspots.maf.tsv.gz Performs COSMIC and Alexandrov et al. mutational signature analysis using the consensus SNV data N/A N/A No No N/A N/A
mutect2-vs-strelka2 snv-mutect2.vep.maf.gz
snv-strelka2.vep.maf.gz
Deprecated; comparison of only two SNV callers, subsumed by snv-callers N/A N/A No No N/A N/A
oncoprint-landscape snv-consensus-plus-hotspots.maf.tsv.gz
fusion-putative-oncogenic.tsv
analyses/focal-cn-file-preparation/results/controlfreec_annotated_cn_autosomes.tsv.gz
independent-specimens.*
Combines mutation, copy number, and fusion data into an OncoPrint plot (#6); will need to be updated as all data types are refined N/A N/A No No N/A N/A
pedcbio-cnv-prepare consensus_wgs_plus_cnvkit_wxs_autosomes.tsv.gz
consensus_wgs_plus_cnvkit_wxs_x_and_y.tsv.gz
Generate annotated CNV files that are similar to seg files for PedCBio uploads to include all samples with neutral CNV calls Upload to PedCBio S3 bucket for ingestion Yes Yes GitHub N/A
pedot-table-column-display-order-name analyses/snv-frequencies/results/gene-level-snv-consensus-annotated-mut-freq.tsv
analyses/snv-frequencies/results/variant-level-snv-consensus-annotated-mut-freq.tsv.gz
analyses/cnv-frequencies/results/gene-level-cnv-consensus-annotated-mut-freq.tsv.gz
analyses/fusion-frequencies/results/putative-oncogene-fused-gene-freq.tsv.gz
analyses/fusion-frequencies/results/putative-oncogene-fusion-freq.tsv.gz
analyses/rna-seq-expression-summary-stats/results/long_n_tpm_mean_sd_quantile_gene_wise_zscore.tsv.gz
analyses/rna-seq-expression-summary-stats/results/long_n_tpm_mean_sd_quantile_group_wise_zscore.tsv.gz
Generate and validate an Excel spreadsheet for Pediatric Open Targets (PedOT) website table display orders and names N/A Upload to FNL BOX Yes Yes GitHub N/A
rna-seq-composition gene-expression-rsem-tpm.rds
histologies.tsv
mend-qc-results.tar.gz
mend-qc-manifest.tsv
star-log-manifest.tsv
star-log-final.tar.gz
Analyzes the fraction of read types that comprise each RNA-Seq sample; flags samples with unusual composition N/A N/A No No N/A N/A
rna-seq-protocol-ruvseq gene-counts-rsem-expected_count-collapsed.rds Evaluate the use of empirical negative control genes for batch correction N/A
rna-seq-protocol-dge gene-counts-rsem-expected_count-collapsed.rds In progress PediatricOpenTargets/ticket-tracker#17; check if the DGE analysis between poly-A and stranded RNA-seq data follow a null-p-value distribution; determine stably expressed genes between poly-A and stranded samples. N/A N/A Yes Yes GitHub N/A
rna-seq-expression-summary-stats gene-expression-rsem-tpm-collapsed.rds
histologies.tsv
Calculate TPM summary statistics within each cancer group and cohort. PediatricOpenTargets/ticket-tracker#51. N/A Upload to FNL Box Yes Yes GitHub N/A
run-gistic histologies.tsv
cnv-consensus.seg.gz
Runs GISTIC 2.0 on SEG files cnv-consensus-gistic.zip (included in data download) cnv-chrom-plot
compare-gistic
molecular-subtyping-ATRT
molecular-subtyping-HGG
Yes Yes GitHub Move to CAVATICA
sample-distribution-analysis histologies.tsv Produces plots and tables that illustrate the distribution of different histologies in the PBTA data N/A N/A No No N/A N/A
selection-strategy-comparison gene-expression-rsem-tpm-collapsed.rds Deprecated; Comparison of RNA-seq data from different selection strategies N/A N/A No No N/A N/A
sex-prediction-from-RNASeq gene-expression-kallisto.stranded.rds
histologies.tsv
predicts genetic sex using RNA-seq data (#84) N/A N/A No No N/A N/A
snv-callers snv-lancet.vep.maf.gz
snv-mutect2.vep.maf.gz
snv-strelka2.vep.maf.gz
snv-vardict.vep.maf.gz
tcga-snv-lancet.vep.maf.gz
tcga-snv-mutect2.vep.maf.gz
tcga-snv-strelka2.vep.maf.gz
Generates consensus SNV and indel calls for PBTA and TCGA data; calculates tumor mutation burden using the consensus calls results/consensus/snv-consensus-plus-hotspots.maf.tsv (included in data download; too large for tracking via GitHub)
results/consensus/snv-consensus-mutation-tmb-all.tsv
results/consensus/snv-consensus-mutation-tmb-coding.tsv(included in data download; too large for tracking via GitHub)
results/consensus/tcga-snv-consensus-mutation.maf.tsv.gz
results/consensus/tcga-snv-mutation-tmb.tsv
results/consensus/tcga-snv-mutation-tmb-coding.tsv
No No N/A N/A
snv-frequencies histologies.tsv
snv-consensus-plus-hotspots.maf.tsv.gz
independent-specimens.wgswxspanel.primary.eachcohort.prefer.wxs.tsv
independent-specimens.wgswxspanel.relapse.eachcohort.prefer.wxs.tsv
independent-specimens.wgswxspanel.primary.prefer.wxs.tsv
independent-specimens.wgswxspanel.relapse.prefer.wxs.tsv
Annotate SNV table with mutation frequencies results/gene-level-snv-consensus-annotated-mut-freq.jsonl.gz
results/gene-level-snv-consensus-annotated-mut-freq.tsv.gz
variant-level-snv-consensus-annotated-mut-freq.jsonl.gz
variant-level-snv-consensus-annotated-mut-freq.tsv.gz
Upload to FNL BOX Yes Yes GitHub N/A
oncoprint-landscape histologies.tsv
snv-consensus-plus-hotspots.maf.tsv.gz
independent-specimens.wgswxspanel.primary.eachcohort.prefer.wxs.tsv
independent-specimens.wgswxspanel.relapse.eachcohort.prefer.wxs.tsv
independent-specimens.wgswxspanel.primary.prefer.wxs.tsv
independent-specimens.wgswxspanel.relapse.prefer.wxs.tsv
Annotate SNV table with mutation frequencies oncoprint-landscape
tp53_nf1_score
molecular-subtyping-CRANIO
molecular-subtyping-HGG
molecular-subtyping-LGAT
molecular-subtyping-SHH-tp53
mutational-signatures
N/A Yes Yes GitHub N/A
ssgsea-hallmark gene-counts-rsem-expected_count-collapsed.rds Deprecated; performs GSVA using Hallmark gene sets N/A N/A No No N/A N/A
survival-analysis TBD In progress; will eventually contain functions for various types of survival analysis (#18) N/A N/A No No N/A N/A
telomerase-activity-prediction gene-expression-rsem-tpm-collapsed.rds
gene-counts-rsem-expected_count-collapsed.rds
Quantify telomerase activity across pediatric brain tumors (part of #148) results/TelomeraseScores_PTBAPolya_counts
results/TelomeraseScores_PTBAPolya_FPKM.txt
results/TelomeraseScores_PTBAStranded_counts.txt
results/TelomeraseScores_PTBAStranded_FPKM.txt
N/A No No N/A N/A
tmb-compare snv-consensus-mutation-tmb-coding.tsv Compares PBTA tumor mutation burden to adult TCGA data. The D3B TMB calculations (TMB_d3b_code) and its comparison notebook (compare-tmb-calculations.Rmd) are deprecated. N/A N/A No No N/A N/A
tp53_nf1_score snv-consensus-plus-hotspots.maf.tsv
gene-expression-rsem-tpm-collapsed.rds
consensus_wgs_plus_cnvkit_wxs.tsv.gz
Applies TP53 inactivation, NF1 inactivation, and Ras activation classifiers to RNA-seq data #165 TP53_NF1_snv_alteration.tsv
gene-expression-rsem-tpm-collapsed_classifier_scores.tsv
loss_overlap_domains_tp53.tsv
poly-A_TP53.png
stranded_TP53.png
sv_overlap_tp53.tsv
tp53_altered_status.tsv
molecular-subtyping-HGG Yes Yes GitHub N/A
transcriptomic-dimension-reduction gene-expression-rsem-tpm.rds
gene-expression-kallisto.rds
Dimension reduction and visualization of RNA-seq data (part of #9) N/A N/A No No N/A N/A
tcga-capture-kit-investigation snv-lancet.vep.maf.gz
snv-mutect2.vep.maf.gz
snv-strelka2.vep.maf.gz
tcga-snv-lancet.vep.maf.gz
tcga-snv-mutect2.vep.maf.gz
tcga-snv-strelka2.vep.maf.gz
histologies.tsv
tcga-manifest.tsv
WGS.hg38.lancet.unpadded.bed
WGS.hg38.strelka2.unpadded.bed
WGS.hg38.mutect2.vardict.unpadded.bed
Investigation of the TMB discrepancy between PBTA and TCGA data results/*.bed N/A Yes No GitHub N/A
tumor-gtex-plots gene-expression-rsem-tpm-collapsed.rds
histologies.tsv
In progress PediatricOpenTargets/ticket-tracker#38; tumor vs normal and tumor only expression plots results/pan_cancer_plots_cancer_group_level.{tsv, jsonl.gz}
results/pan_cancer_plots_cohort_cancer_group_level.{tsv, jsonl.gz}
results/tumor_normal_gtex_plots_cancer_group_level.{tsv, jsonl.gz}
results/tumor_normal_gtex_plots_cohort_cancer_group_level.{tsv, jsonl.gz}
results/metadata.tsv
plots/*.png
N/A Yes Yes GitHub N/A