Files
SimurgArray/docs/validation/P4_preset_omni2141_summary.json
T
kemal 80b93e9f45 P5 validated on 2141 1000G samples; control-metric fixes (K-021)
- Omni2.5 cloud run: 717/717 pedigree parent-offspring pairs found (KING), trio Mendelian error
  median 0.031 %, sex vs pedigree 99.6 %, P4 preset re-check 2138/2141 byte-identical (K-015 closed)
- qc/controls: skip bead addresses absent from the IDAT; control missing only if none is on the chip
- QC-008 amended: signal / zero background = +Inf (passes), 0/0 = NaN (flagged); Inf in TSV/report
- plotly bundle stored gzip-compressed (repo grep stays clean: the DOM event name contains the
  forbidden substring)
- docs: validation P5 part 2, summaries, known_unknowns K-021
2026-09-28 10:25:32 +01:00

133 lines
3.3 KiB
JSON

{
"n_gtc": 2141,
"n_compared": 2141,
"errors": [],
"byte_identical": 2138,
"samples_with_no_field_diff": 2138,
"samples_with_field_diff": {
"raw_x": 1,
"genotypes": 3,
"genotype_scores": 3,
"base_calls": 3,
"call_rate": 2,
"logr_dev": 3,
"raw_y": 2,
"normalization_transforms": 2
},
"genotype_diff_loci_total": 5,
"score_diff_loci_total": 18229,
"max_score_abs_diff": 0.9426311254501343,
"cluster_files": [
"HumanOmni2.5-4v1-Multi_B.egt"
],
"sex_agreement_by_version": {
"1": 2141,
"2": 2129
},
"ref_sex_counts": {
"M": 1054,
"F": 1087,
"U": 0
},
"examples": [
{
"gtc": "/work/omni/data/5767788121/5767788121_R01C01.gtc",
"cluster_file": "HumanOmni2.5-4v1-Multi_B.egt",
"max_score_abs_diff": 0.6647092700004578,
"field_diffs": {
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"genotypes": 1,
"genotype_scores": 1,
"base_calls": 1,
"call_rate": [
"0.9905122518539429",
"0.9905126690864563"
],
"logr_dev": [
"0.16615425050258636",
"0.16615475714206696"
]
},
"sex_by_version": {
"1": "F",
"2": "F"
},
"sex_ref": "F",
"byte_identical": false,
"ref_layout_canonical": true,
"metadata": {
"autocall_version": "1.6.2.2",
"cluster_file": "HumanOmni2.5-4v1-Multi_B.egt",
"imaging_date": "Wednesday, September 07, 2011 11:17:40 PM"
}
},
{
"gtc": "/work/omni/data/5826354152/5826354152_R02C01.gtc",
"cluster_file": "HumanOmni2.5-4v1-Multi_B.egt",
"max_score_abs_diff": 0.9426311254501343,
"field_diffs": {
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"genotypes": 2,
"genotype_scores": 4270,
"base_calls": 2,
"normalization_transforms": true,
"call_rate": [
"0.9955130815505981",
"0.9955138564109802"
],
"logr_dev": [
"0.16252823173999786",
"0.16252586245536804"
]
},
"sex_by_version": {
"1": "M",
"2": "M"
},
"sex_ref": "M",
"byte_identical": false,
"ref_layout_canonical": true,
"metadata": {
"autocall_version": "1.6.2.2",
"cluster_file": "HumanOmni2.5-4v1-Multi_B.egt",
"imaging_date": "Wednesday, September 07, 2011 10:41:50 PM"
}
},
{
"gtc": "/work/omni/data/6268201099/6268201099_R02C01.gtc",
"cluster_file": "HumanOmni2.5-4v1-Multi_B.egt",
"max_score_abs_diff": 0.37550604343414307,
"field_diffs": {
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"genotypes": 2,
"genotype_scores": 13958,
"base_calls": 2,
"normalization_transforms": true,
"logr_dev": [
"0.18736381828784943",
"0.18737195432186127"
]
},
"sex_by_version": {
"1": "F",
"2": "F"
},
"sex_ref": "F",
"byte_identical": false,
"ref_layout_canonical": true,
"metadata": {
"autocall_version": "1.6.2.2",
"cluster_file": "HumanOmni2.5-4v1-Multi_B.egt",
"imaging_date": "Wednesday, October 19, 2011 1:41:11 AM"
}
}
],
"params": {
"preset": "autocall-1.6.2",
"norm_version": "1.1.2",
"sex_version": 1
},
"seconds": 1101.9,
"passed": false
}