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update data files
1 parent aee5a37 commit 74a21d1

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Lines changed: 4303 additions & 9 deletions

config_AML.yaml

Lines changed: 11 additions & 9 deletions
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@@ -14,39 +14,39 @@ image_dpi: 200 # Resolution of the images generated in the report, if the format
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#############################################
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RNA_TPM_file: "data/TPM_ckAML.tsv"
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breakpoints: "data/breakpoints.tsv"
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breakpoints: "data/breakpoints_ckAML.tsv"
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gtf: data/Homo_sapiens.GRCh37.75.gtf.gz
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cytobands: "data/hg19_cytobands.tsv"
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cytobands: "data/cytobands_hg19.tsv"
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#############################################
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# Optional but strongly recommended inputs
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#############################################
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# Copy number alterations (used to correct for gene expression, and also add breakpoints if missed by the SV caller)
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CNAs: "data/CNAs.tsv"
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CNAs: "data/CNAs_ckAML.tsv"
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# Directory containing the output of fast_ase (or GATK ASEReadcounter). This directory contains one tsv file per sample, called {sample}.tsv
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ase_dir: "data/ASE"
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ase_dir: "data/ASE_ckAML"
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# Allele-specific expression will be ignored for imprinted genes, if they are provided.
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imprinted_genes_file: "data/imprinted_genes.txt"
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# pyjacker looks for SVs in the same TAD as a gene (+ a margin).
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# If not TADs are provided, it will look for SVs which are up to max_dist_bp2tss from the TSS.
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TADs_file: "data/HSPC_TADs.bed"
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TADs_file: "data/TADs_HSPC_hg19.bed"
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#max_dist_bp2tss: 1500000
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# Provide enhancers scored by ROSE, for the correct cell type.
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# This is optional, but if provided, it will be used to score the candidate enhancer hijacking events, in addition to outlier expression and allele-specific expression.
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enhancers: "data/enhancers_myeloid.tsv"
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enhancers: "data/enhancers_myeloid_hg19.tsv"
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##############################################
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# Additional parameters
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#############################################
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##############################################
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# Provide fusion transcripts (used for annotating the results)
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fusions: "data/fusions.tsv"
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fusions: "data/fusions_ckAML.tsv"
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# These weights influence the scoring of the candidate enhancer hijacking events, but their default values should work well.
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weight_OHE: 4 # weight for the outlier high expression score
@@ -56,7 +56,9 @@ weight_deletion: 5 # weight for the deletion (penalize if a gene is deleted in a
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# Number of times to iterate through all genes when generating the null distribution for the false discovery rate.
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# A smaller number of iterations is faster, but leads to an FDR which is not as precise.
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n_iterations_FDR: 1
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n_iterations_FDR: 50
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n_threads: 6 # Number of threads to use
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data/Homo_sapiens.GRCh37.75.gtf.gz

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