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4.3 years ago
cocchi.e89
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290
I am working on some CNV analysis in human WGS samples through GATK CNV germline pipeline. I was wondering if there is any easy method to plot these results (I know they integrated it in the somatic CNV pipeline).
Here an example of the results .vcf:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT KO0002
1 3769201 CNV_1_3769201_4137300 N . 3076.53 . END=4137300 GT:CN:NP:QA:QS:QSE:QSS 0:2:332:20:3077:60:68
1 4137301 CNV_1_4137301_4137600 N <DEL> 141.48 . END=4137600 GT:CN:NP:QA:QS:QSE:QSS 1:0:1:141:141:141:141
1 4137601 CNV_1_4137601_6065700 N . 3076.53 . END=6065700 GT:CN:NP:QA:QS:QSE:QSS 0:2:3640:35:3077:12:83
1 6066301 CNV_1_6066301_6066600 N <DEL> 11.88 . END=6066600 GT:CN:NP:QA:QS:QSE:QSS 1:1:1:12:12:12:12
1 6066601 CNV_1_6066601_7174800 N . 3076.53 . END=7174800 GT:CN:NP:QA:QS:QSE:QSS 0:2:3166:24:3077:93:12
1 7174801 CNV_1_7174801_7175400 N <DEL> 250.05 . END=7175400 GT:CN:NP:QA:QS:QSE:QSS 1:0:2:154:250:135:193
1 7175401 CNV_1_7175401_7924500 N . 3076.53 . END=7924500 GT:CN:NP:QA:QS:QSE:QSS 0:2:1950:41:3077:15:41
1 7924801 CNV_1_7924801_7925100 N <DEL> 14.91 . END=7925100 GT:CN:NP:QA:QS:QSE:QSS 1:1:1:15:15:15:15
1 7925101 CNV_1_7925101_7925400 N <DEL> 105.35 . END=7925400 GT:CN:NP:QA:QS:QSE:QSS 1:0:1:105:105:105:105
1 7925401 CNV_1_7925401_10482600 N . 3076.53 . END=10482600 GT:CN:NP:QA:QS:QSE:QSS 0:2:5983:11:3077:11:88
1 10482601 CNV_1_10482601_10483500 N <DEL> 73.13 . END=10483500 GT:CN:NP:QA:QS:QSE:QSS 1:1:3:23:73:4:11
1 10483501 CNV_1_10483501_12835800 N . 3076.53 . END=12835800 GT:CN:NP:QA:QS:QSE:QSS 0:2:5245:4:3077:102:4
Thank you so much in advance for any help!
Have you checked out the gCNV-related tutorials on GATK? You may want to check out this one which shows you some post-gCNV data conversions which you may need to visualize your data.