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validation.md

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Validation and benchmarking with A-full and CPCG0196-B1 - single WGS mode

  1. A-full
  2. CPCG0196-B1

A-full

Summary tables comparing call-gSNP v7.0.0 to call-gSNP-DSL1 v5.4.5

Input: /hot/pipeline/development/slurm/call-gSNP/7.0.0-rc1/pre_standardization/single_A-full/A-full.csv

  • call-gSNP v7.0.0: /hot/pipeline/development/slurm/call-gSNP/7.0.0-rc1/pre_standardization/single_A-full
    • Runtime: 2d 4h 14m 2s
  • call-gSNP-DSL1 v5.4.5: /hot/pipeline/development/slurm/call-gSNP/DSL1_outputs/v5.4.5_for_comparison
    • Runtime: 2d 15h 9m 53s

Raw VCF comparison:

Version VCF (Common) VCF (Unique)
7.0.0 4813793 74 (0.0015%)
DSL1-5.4.5 4813793 62 (0.0013%)

Raw GVCF comparison:

Version VCF (Common) VCF (Unique)
7.0.0 51962094 3234 (0.0062%)
DSL1-5.4.5 51962094 3454 (0.0066%)

Filtered SNV GVCF:

Version VCF (Common) VCF (Unique)
7.0.0 3265039 24550 (0.74%)
DSL1-5.4.5 3265039 17728 (0.54%)

Filtered INDEL GVCF:

Version VCF (Common) VCF (Unique)
7.0.0 811214 2875 (0.35%)
DSL1-5.4.5 811214 6501 (0.79%)

Realigned and recalibrated BAM:

SAMPLE LEFT_FILE RIGHT_FILE MAPPINGS_MATCH MAPPINGS_DIFFER UNMAPPED_BOTH UNMAPPED_LEFT UNMAPPED_RIGHT MISSING_LEFT MISSING_RIGHT DUPLICATE_MARKINGS_DIFFER ARE_EQUAL
Normal DSL1-5.4.5 7.0.0 1723823909 11 4585406 0 0 3753 0 0 N

CPCG0196-B1

Summary tables comparing call-gSNP v7.0.0 to call-gSNP-DSL1 v5.4.3

Input: /hot/pipeline/development/slurm/call-gSNP/7.0.0-rc1/pre_standardization/single_CPCG0196-B1/CPCG0196-B1.csv

  • call-gSNP v7.0.0: /hot/pipeline/development/slurm/call-gSNP/7.0.0-rc1/pre_standardization/single_CPCG0196-B1
    • Runtime: 2d 13h 30m 29s
  • call-gSNP-DSL1 v5.4.3: /hot/pipeline/development/slurm/call-gSNP/DSL1_outputs/call-gSNP_v5.4.3/outputs_CPCG0196-B1/call-gSNP-20210324-210359/
    • Runtime: 3d 0h 9m 53s

Raw VCF comparison:

Version VCF (Common) VCF (Unique)
7.0.0 4863231 133768 (2.68%)
DSL1-5.4.3 4863231 577 (0.012%)

Raw GVCF comparison:

Version VCF (Common) VCF (Unique)
7.0.0 51588596 3653326 (6.61%)
DSL1-5.4.3 51588596 7506 (0.014%)

Filtered SNV GVCF:

Version VCF (Common) VCF (Unique)
7.0.0 3035126 130500 (4.02%)
DSL1-5.4.3 3035126 77095 (2.38%)

Filtered INDEL GVCF:

Version VCF (Common) VCF (Unique)
7.0.0 844167 6042 (0.71%)
DSL1-5.4.3 844167 361 (0.042%)

Realigned and recalibrated BAM:

SAMPLE LEFT_FILE RIGHT_FILE MAPPINGS_MATCH MAPPINGS_DIFFER UNMAPPED_BOTH UNMAPPED_LEFT UNMAPPED_RIGHT MISSING_LEFT MISSING_RIGHT DUPLICATE_MARKINGS_DIFFER ARE_EQUAL
Normal DSL1-5.4.3 7.0.0 1935641125 182 16050267 0 0 21372 0 0 N