8000 DESEq error on MonoallelicExpression_pipeline_MAE_deseq_mae_R module using demo dataset · Issue #601 · gagneurlab/drop · GitHub
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DESEq error on MonoallelicExpression_pipeline_MAE_deseq_mae_R module using demo dataset #601

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@Roshanshafiha

Hi, I am running the whole DROP pipeline (version-1.4.0) on the test data and I am getting the below error, may I know how can I fix this?

Image

Below is my config file:



projectTitle: Detection of RNA Outlier Pipeline
htmlOutputPath: Output/html
indexWithFolderName: true
root: Output
sampleAnnotation: Data/sample_annotation_relative.tsv
geneAnnotation:
  v29: Data/gencode_annotation_trunc.gtf
genomeAssembly: hg19
genome: 
  ncbi: Data/chr21_ncbi.fa
  ucsc: Data/chr21.fa
hpoFile: /projects/pipelines/drop_demo/hpo_genes.tsv.gz
random_seed: true
exportCounts:
  geneAnnotations:
  - v29
  excludeGroups:
    - mae
    - outrider_external
    - fraser_external

aberrantExpression:
    run: true
    groups:
      - outrider
      - outrider_external
    fpkmCutoff: 1
    implementation: autoencoder
    padjCutoff: 1
    zScoreCutoff: 0
    genesToTest: "Data/genes_to_test.yaml"
    maxTestedDimensionProportion: 3
    yieldSize: 2000000

aberrantSplicing:
    run: true
    groups:
      - fraser
      - fraser_external
    recount: true
    longRead: false
    keepNonStandardChrs: false
    filter: false
    minExpressionInOneSample: 20
    quantileMinExpression: 10 
    quantileForFiltering: 0.95 
    minDeltaPsi: 0.05
    implementation: PCA
    padjCutoff: 1 
    maxTestedDimensionProportion: 6
    genesToTest: "Data/genes_to_test.yaml"
    ### FRASER1 configuration for demo dataset
    FRASER_version: "FRASER" 
    deltaPsiCutoff : 0.05 

mae:
    run: true
    groups:
      - mae
    gatkIgnoreHeaderCheck: true
    padjCutoff: .5
    allelicRatioCutoff: 0.7
    addAF: false
    maxAF: .001
    maxVarFreqCohort: 1
    # VCF-BAM matching
    qcVcf: Data/qc_vcf_1000G.vcf.gz
    qcGroups:
      - mae
    dnaRnaMatchCutoff: 0.85

rnaVariantCalling:
    run: true
    groups:
      - batch_0
      - batch_1
    highQualityVCFs:
      - Data/high_confidence_snps.vcf.gz
      - Data/high_confidence_indels.vcf.gz
    dbSNP: Data/dbSNP_chr21.vcf.gz
    repeat_mask: Data/repeat_mask_chr21.bed
    createSingleVCF: true
    addAF: false
    maxAF: 0.001
    maxVarFreqCohort: 1
    hcArgs: null
    minAlt: 3
    yieldSize: 100000

tools:
  gatkCmd: gatk
  bcftoolsCmd: bcftools
  samtoolsCmd: samtools

I have downloaded the demo data from the following script download_data.sh :

#!/bin/bash
set -e

# get data
resource_url="https://github.com/gagneurlab/drop_demo_data/archive/refs/heads/main.zip"
tmpdir="$(dirname "$(mktemp)")"
wget -nc -P $tmpdir $resource_url

# if the directory Data does not exist
if [ ! -d "Data" ]; then
        unzip "$tmpdir/main.zip" 
        mv drop_demo_data-main/Data Data
        rm -rf drop_demo_data-main
else
    echo "Data directory not empty, is not updated"
fi

# unzip fasta
cd ./Data
if [ ! -f "chr21.fa" ]; then gunzip chr21.fa.gz; fi

Activity

  1. AtaJadidAhari commented on Mar 25, 2025

    @AtaJadidAhari
    Collaborator

    Hi, I suspect that running GATK has failed. Can you share the content of Output/processed_data/mae/allelic_counts/HG00096--HG00096.csv.gz?

  2. Roshanshafiha commented on Mar 26, 2025

    @Roshanshafiha
    Author

    Hi , I have attached the output for the file below :

    contig position variantID refAllele altAllele refCount altCount totalCount lowMAPQDepth lowBaseQDepth rawDepth otherBases improperPairs ID
    contig position variantID refAllele altAllele refCount altCount totalCount lowMAPQDepth lowBaseQDepth rawDepth otherBases improperPairs HG00096--HG00096
    21 9907416 rs574952059 C T 44 1 45 0 0 46 0 1 HG00096--HG00096
    21 15744767 rs11088017 G A 30 37 67 0 0 68 0 1 HG00096--HG00096
    21 27543049 rs459543 C G 11 11 22 0 0 22 0 0 HG00096--HG00096
    21 33370900 rs9305483 T C 0 1 1 0 0 1 0 0 HG00096--HG00096
    21 33372446 rs2833598 C T 0 1 1 0 0 1 0 0 HG00096--HG00096
    21 33372749 rs3746856 T C 0 1 1 0 0 1 0 0 HG00096--HG00096
    21 33373930 rs3787697 A C 0 1 1 0 0 1 0 0 HG00096--HG00096
    21 33374102 rs3578 C T 0 2 2 0 0 2 0 0 HG00096--HG00096
    21 33374112 rs3576 G A 0 2 2 0 0 2 0 0 HG00096--HG00096
    21 34635065 rs9984273 C T 2 3 5 0 0 6 1 0 HG00096--HG00096
    21 34666376 rs1467845 A G 2 1 3 0 0 3 0 0 HG00096--HG00096
    21 34668747 rs3171425 A G 69 58 127 0 0 130 1 2 HG00096--HG00096
    21 34668976 rs8178562 G A 50 48 98 0 0 100 1 1 HG00096--HG00096
    21 34669381 rs1058867 G A 30 32 62 0 0 96 0 34 HG00096--HG00096
    21 35471815 rs2211792 T C 13 11 24 0 0 26 1 1 HG00096--HG00096
    21 35472847 rs28570507 A G 14 11 25 0 0 25 0 0 HG00096--HG00096
    21 35474410 rs2244724 G A 25 15 40 0 0 40 0 0 HG00096--HG00096
    21 35478063 rs9984245 G T 42 51 93 0 0 94 0 1 HG00096--HG00096
    21 38308911 rs1065758 G A 6 6 12 0 0 12 0 0 HG00096--HG00096
    21 38436944 rs17229045 G A 2 2 4 0 0 4 0 0 HG00096--HG00096
    21 38444890 rs2298682 A G 3 2 5 0 0 6 0 1 HG00096--HG00096
    21 38444995 rs7280542 A G 0 3 3 0 0 3 0 0 HG00096--HG00096
    21 38445069 rs2298683 T C 2 2 4 0 0 4 0 0 HG00096--HG00096
    21 38445095 rs2298684 G A 2 1 3 0 0 3 0 0 HG00096--HG00096
    21 38596677 rs1128922 G A 38 47 85 0 0 86 0 1 HG00096--HG00096
    21 40190443 rs115786160 C T 5 3 8 0 0 9 1 0 HG00096--HG00096
    21 40556595 rs2236437 C T 4 0 4 0 0 4 0 0 HG00096--HG00096
    21 43716901 rs1044317 A G 12 9 21 0 0 21 0 0 HG00096--HG00096
    21 44450938 rs3403 T C 3 0 3 0 0 4 0 1 HG00096--HG00096
    21 44515685 rs2839634 T C 0 4 4 0 0 4 0 0 HG00096--HG00096
    21 44527669 rs17115876 T G 2 9 11 0 0 11 0 0 HG00096--HG00096
    21 45078035 rs2838343 C T 2 0 2 0 0 2 0 0 HG00096--HG00096
    21 45213190 rs184838512 C T 2 0 2 0 0 2 0 0 HG00096--HG00096
    21 46900410 rs2236467 C T 1 0 1 0 0 1 0 0 HG00096--HG00096
    21 46929467 rs1050351 G A 0 2 2 0 0 2 0 0 HG00096--HG00096
    21 46932328 rs7499 G A 2 2 4 0 0 4 0 0 HG00096--HG00096
    21 46932652 rs7867 G A 4 1 5 0 0 5 0 0 HG00096--HG00096
    21 46934518 rs2838955 T C 2 4 6 0 0 6 0 0 HG00096--HG00096
    21 47423389 rs1053312 G A 0 0 0 0 0 1 0 1 HG00096--HG00096
    21 47423507 rs1053315 G A 0 1 1 0 0 1 0 0 HG00096--HG00096
    21 47423636 rs1053320 C T 0 1 1 0 0 1 0 0 HG00096--HG00096
    21 47608580 rs2968 G A 3 2 5 0 0 5 0 0 HG00096--HG00096
    21 47655027 rs2298695 A C 1 1 2 0 0 2 0 0 HG00096--HG00096

  3. vyepez88 commented on Apr 4, 2025

    @vyepez88
    Collaborator

    Hi, for some reason it seems that the header of the table is twice. Can you pleas manually remove one of the two headers and rerun the pipeline?

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