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
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"child": "HG01463",
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||||
"father": "HG01461",
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||||
"mother": "HG01462",
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"errors": 1389,
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||||
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||||
"rate": 0.0005908501180424102
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||||
},
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||||
{
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||||
"child": "NA20279",
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||||
"father": "NA20278",
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||||
"mother": "NA20282",
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||||
"errors": 1378,
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||||
"informative": 2368169,
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"rate": 0.0005818841476262885
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||||
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||||
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||||
},
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||||
"contamination": {
|
||||
"min": -0.00131277,
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||||
"p01": -0.000799082,
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||||
"median": 0.00024026,
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||||
"p99": 0.009337409999999999,
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||||
"max": 0.07474245,
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||||
"n": 2141,
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||||
"above_0.02": 15
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||||
},
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||||
"contamination_top": [
|
||||
{
|
||||
"sample_id": "5434246028_R02C01",
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||||
"id": "HG00707",
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||||
"c": 0.07474245
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||||
},
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||||
{
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||||
"sample_id": "5434246028_R04C01",
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||||
"id": "HG01072",
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||||
"c": 0.06748388
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||||
},
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||||
{
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||||
"sample_id": "5460479065_R04C01",
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||||
"id": "NA18982",
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||||
"c": 0.06604837
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||||
},
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||||
{
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||||
"sample_id": "5767788059_R02C01",
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||||
"id": "HG01667",
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||||
"c": 0.06352254
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||||
},
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||||
{
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||||
"sample_id": "5426529051_R04C01",
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||||
"id": "NA20760",
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||||
"c": 0.06220859
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||||
},
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||||
{
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||||
"sample_id": "5885434025_R01C01",
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||||
"id": "HG00098",
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||||
"c": 0.05900927
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||||
},
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||||
{
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||||
"sample_id": "5434246054_R02C01",
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||||
"id": "HG00335",
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||||
"c": 0.05507963
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||||
},
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||||
{
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||||
"sample_id": "5434246100_R04C01",
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||||
"id": "HG00637",
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||||
"c": 0.03604213
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||||
},
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||||
{
|
||||
"sample_id": "5434203056_R03C01",
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||||
"id": "HG00358",
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||||
"c": 0.02990194
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||||
},
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||||
{
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||||
"sample_id": "5434246020_R01C01",
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||||
"id": "NA19129",
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||||
"c": 0.02691854
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||||
},
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||||
{
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||||
"sample_id": "5434246020_R03C01",
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||||
"id": "NA12234",
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||||
"c": 0.0254513
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||||
},
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||||
{
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||||
"sample_id": "5826338161_R02C01",
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||||
"id": "HG01686",
|
||||
"c": 0.02254977
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||||
},
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||||
{
|
||||
"sample_id": "5443767155_R04C01",
|
||||
"id": "NA20526",
|
||||
"c": 0.02212635
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||||
},
|
||||
{
|
||||
"sample_id": "5460479059_R04C01",
|
||||
"id": "NA19058",
|
||||
"c": 0.02205388
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||||
},
|
||||
{
|
||||
"sample_id": "6317383048_R03C01",
|
||||
"id": "HG02229",
|
||||
"c": 0.02015661
|
||||
}
|
||||
],
|
||||
"functional_status": {
|
||||
"FAIL": 604,
|
||||
"PASS": 1537
|
||||
},
|
||||
"control_status": {
|
||||
"FLAGGED": 1795,
|
||||
"CLEAR": 346
|
||||
},
|
||||
"control_flag_codes": {
|
||||
"stainingGreen": 1794,
|
||||
"stainingRed": 1794
|
||||
},
|
||||
"flags": {
|
||||
"high_lrr_sd": 602,
|
||||
"unexpected_relatedness": 1139,
|
||||
"contaminated": 15,
|
||||
"low_call_rate": 2
|
||||
},
|
||||
"control_metrics": {
|
||||
"restoration": {},
|
||||
"staining_green": {
|
||||
"min": 39.41527002,
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||||
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||||
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||||
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||||
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||||
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||||
},
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||||
"staining_red": {
|
||||
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|
||||
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||||
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||||
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||||
"max": 224.93461538,
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||||
"n": 348
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||||
},
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||||
"extension_green": {
|
||||
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||||
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||||
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||||
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||||
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||||
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||||
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|
||||
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||||
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||||
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||||
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||||
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||||
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||||
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||||
},
|
||||
"hyb_high_med": {
|
||||
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|
||||
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|
||||
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||||
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||||
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||||
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||||
},
|
||||
"hyb_med_low": {
|
||||
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|
||||
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|
||||
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||||
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||||
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||||
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|
||||
},
|
||||
"target_removal_1": {
|
||||
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|
||||
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|
||||
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||||
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||||
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||||
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||||
},
|
||||
"stringency": {
|
||||
"min": 4.61498708,
|
||||
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||||
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||||
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||||
"max": 23.71089631,
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||||
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||||
},
|
||||
"nsb_green": {
|
||||
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|
||||
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|
||||
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||||
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|
||||
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||||
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||||
},
|
||||
"nsb_red": {
|
||||
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|
||||
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|
||||
"median": 13.42666667,
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||||
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|
||||
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||||
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||||
},
|
||||
"np_green": {
|
||||
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|
||||
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|
||||
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||||
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|
||||
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|
||||
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||||
},
|
||||
"np_red": {
|
||||
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|
||||
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|
||||
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|
||||
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|
||||
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|
||||
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||||
}
|
||||
},
|
||||
"het_rate": {
|
||||
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|
||||
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|
||||
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|
||||
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|
||||
"max": 0.22765567,
|
||||
"n": 2141
|
||||
},
|
||||
"seconds": 291.3,
|
||||
"checks": {
|
||||
"identified_ge_99pct": true,
|
||||
"sex_agreement_ge_99pct": true,
|
||||
"parent_offspring_detected_ge_99pct": true,
|
||||
"median_mendel_rate_lt_0.001": true
|
||||
},
|
||||
"passed": true
|
||||
}
|
||||
Reference in new issue
Block a user