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concordance with indels issue

Open jokelley opened this issue 9 months ago • 1 comments

I am trying to compare two vcfs, specifically indels and the concordance is incorrect. It says the two vcfs for the first individual are AA Het -> AA Het but it should be AA Het to AA Hom. Any insight appreciated!

Truth region ##bcftools_viewVersion=1.21+htslib-1.21 ##bcftools_viewCommand=view -r NW_026622797.1:20902219-20902230 combined_genotype_output.vcf.gz; Date=Thu Mar 27 14:52:44 2025 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT BB_WSU_973 BB_WSU_974 BB_WSU_975 BB_WSU_Adak BB_WSU_Cooke BB_WSU_Dodge BB_WSU_Frank BB_WSU_John BB_WSU_Oakley BB_WSU_Willow BB_WSU_Zuri NW_026622797.1 20902219 . G GCACA,GCACACACA,GCACGCACA,GCACGCACACACA,GCACACA 7722.9 . AC=6,2,1,3,1;AF=0.273,0.091,0.045,0.136,0.045;AN=22;BaseQRankSum=-0.38;DP=417;ExcessHet=0.7463;FS=2.188;InbreedingCoeff=0.0598;MLEAC=6,2,1,3,1;MLEAF=0.273,0.091,0.045,0.136,0.045;MQ=59.93;MQRankSum=0;QD=27.98;ReadPosRankSum=0.781;SOR=0.843 GT:AD:DP:GQ:PL 2/5:0,0,8,0,0,12:20:99:870,734,682,336,330,274,734,682,330,682,734,682,330,682,682,223,219,0,219,219,161 0/2:7,0,10,0,0,0:17:99:383,404,654,0,250,220,404,654,250,654,404,654,250,654,654,404,654,250,654,654,654 0/3:23,0,0,19,0,0:42:99:704,773,1690,773,1690,1690,0,917,917,860,773,1690,1690,917,1690,773,1690,1690,917,1690,1690 0/0:43,0,0,0,0,0:43:51:0,51,1373,51,1373,1373,51,1373,1373,1373,51,1373,1373,1373,1373,51,1373,1373,1373,1373,1373 1/1:0,38,0,0,0,0:38:99:1639,114,0,1639,114,1640,1639,114,1640,1640,1639,114,1640,1640,1640,1639,114,1640,1640,1640,1640 1/4:0,9,0,0,13,0:22:99:1020,614,585,993,612,990,926,546,924,999,381,0,378,454,415,1000,620,998,968,423,1035 0/0:42,0,0,0,0,0:42:99:0,112,1625,112,1625,1625,112,1625,1625,1625,112,1625,1625,1625,1625,112,1625,1625,1625,1625,1625 0/4:28,0,0,0,18,0:46:99:652,736,1827,736,1827,1827,736,1827,1827,1827,0,1090,1090,1090,1036,736,1827,1827,1827,1090,1827 0/1:16,23,0,0,0,0:39:99:917,0,587,966,657,1622,966,657,1622,1622,966,657,1622,1622,1622,966,657,1622,1622,1622,1622 1/4:0,7,0,0,12,0:19:99:863,569,548,842,572,875,765,503,802,872,271,0,306,371,342,849,578,883,845,349,920 0/1:14,19,0,0,0,0:33:99:750,0,531,792,588,1380,792,588,1380,1380,792,588,1380,1380,1380,792,588,1380,1380,1380,1380

New vcf ##bcftools_viewVersion=1.21+htslib-1.21 ##bcftools_viewCommand=view -r NW_026622797.1:20902219-20902230 combined_genotype_output_10x.vcf.gz; Date=Thu Mar 27 14:51:25 2025 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT BB_WSU_973 BB_WSU_974 BB_WSU_975 BB_WSU_Adak BB_WSU_Cooke BB_WSU_Dodge BB_WSU_Frank BB_WSU_John BB_WSU_Oakley BB_WSU_Willow BB_WSU_Zuri NW_026622797.1 20902219 . G GCACA,GCACGCACA,GCACGCACACACA,GCACACA 1222.69 . AC=5,1,3,2;AF=0.227,0.045,0.136,0.091;AN=22;BaseQRankSum=-0.366;DP=84;ExcessHet=0.0343;FS=1.614;InbreedingCoeff=0.381;MLEAC=5,1,3,1;MLEAF=0.227,0.045,0.136,0.045;MQ=60;MQRankSum=0;QD=31.35;ReadPosRankSum=0;SOR=1.402 GT:AD:DP:GQ:PL 4/4:0,0,0,0,2:2:6:75,75,75,75,75,75,75,75,75,75,6,6,6,6,0 0/0:3,0,0,0,0:3:6:0,6,90,6,90,90,6,90,90,90,6,90,90,90,90 0/2:4,0,4,0,0:8:99:156,168,327,0,159,147,168,327,159,327,168,327,159,327,327 0/0:7,0,0,0,0:7:6:0,6,235,6,235,235,6,235,235,235,6,235,235,235,235 1/1:0,7,0,0,0:7:21:300,21,0,300,21,300,300,21,300,300,300,21,300,300,300 3/3:0,0,0,5,0:5:15:225,225,225,225,225,225,15,15,15,0,225,225,225,15,225 0/0:17,0,0,0,0:17:35:0,35,562,35,562,562,35,562,562,562,35,562,562,562,562 0/0:12,0,0,0,0:12:27:0,27,405,27,405,405,27,405,405,405,27,405,405,405,405 0/1:3,2,0,0,0:5:75:75,0,120,84,126,210,84,126,210,210,84,126,210,210,210 1/3:0,2,0,3,0:5:75:210,126,120,210,126,210,84,0,84,75,210,126,210,84,210 0/1:1,6,0,0,0:7:24:249,0,24,252,42,294,252,42,294,294,252,42,294,294,294

jokelley avatar Mar 27 '25 21:03 jokelley

I don't understand the issue, can you provide more details. From your description it is not clear which bcftools command you are unhappy with and how were the two VCFs generated.

pd3 avatar Mar 30 '25 16:03 pd3