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We find multiple entries at the same position with the same pair of alleles after merge. I suspect that this happens at complex loci where there are overlapping indels and snvs but we see multiple simple substitution variants as well as duplicated indels.
We show the first 9 columns only. Look at chr14:53952388 as an example. Notice there are two A/C entries. We note your response to the now closed #2215 and no 'vertical' merging but shouldn't these have merged ?
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT
chr14 53952385 . A <NON_REF> . PASS . GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT
chr14 53952386 . C <NON_REF> . PASS . GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT
chr14 53952387 . CA <NON_REF> 39.13 PASS MQRankSum=4.805;ReadPosRankSum=1.526;FractionInformativeReads=0.941;DP=34;DQUAL=50;MQ=250 GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT:AF:F1R2:F
2R1:DGQ:PRI:SB:MB
chr14 53952387 . CA C 39.13 PASS MQRankSum=4.805;ReadPosRankSum=1.526;FractionInformativeReads=0.941;DP=34;DQUAL=50;MQ=250 GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT:AF:F1R2:F2R1:DGQ:
PRI:SB:MB
chr14 53952388 . A C 56.72 PASS MQRankSum=4.002;ReadPosRankSum=1.98;FractionInformativeReads=1;DP=203;DQUAL=33.53;MQ=248.644 GT:AD:AF:DP:F1R2:F2R1:GQ:DGQ:PL:SPL:ICNT:PRI:SB:
MB:PS:MIN_DP
chr14 53952388 . A <NON_REF> 56.72 PASS MQRankSum=4.002;ReadPosRankSum=1.98;FractionInformativeReads=1;DP=203;DQUAL=33.53;MQ=248.644 GT:AD:AF:DP:F1R2:F2R1:GQ:DGQ:PL:SPL:ICNT
:PRI:SB:MB:PS:MIN_DP
chr14 53952388 . A ACCC 29.78 PASS FractionInformativeReads=0.964;DP=28;DQUAL=49.7;MQ=250 GT:AD:AF:DP:F1R2:F2R1:GQ:DGQ:PL:SPL:ICNT:PRI:SB:MB:MIN_DP
chr14 53952388 . A C 29.78 PASS FractionInformativeReads=0.964;DP=28;DQUAL=49.7;MQ=250 GT:AD:AF:DP:F1R2:F2R1:GQ:DGQ:PL:SPL:ICNT:PRI:SB:MB:MIN_DP
chr14 53952388 . A <NON_REF> 29.78 PASS FractionInformativeReads=0.964;DP=28;DQUAL=49.7;MQ=250 GT:AD:AF:DP:F1R2:F2R1:GQ:DGQ:PL:SPL:ICNT:PRI:SB:MB:MIN_DP
chr14 53952389 . C <NON_REF> . PASS . GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT
chr14 53952390 . C <NON_REF> . PASS . GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT
chr14 53952391 . C <NON_REF> . PASS . GT:AD:DP:GQ:MIN_DP:PL:SPL:ICNT
We have a small test case we can share separately when you are ready to review.
Thanks.
The text was updated successfully, but these errors were encountered:
jcm6t
changed the title
bcftools 1.20 merge (--merge both) gvcfs results in more than one variant at the same location for complex polyallelic MNP variants
bcftools 1.20 merge gvcfs results in more than one variant at the same location for complex polyallelic MNP variants
Dec 9, 2024
I'm not clear if this is expected behavior or a bug.
bcftools 1.20, file formats are VCF 4.2.
We merge multiple gvcfs, using the following pipeline - this is for our test case of chr14 with a selected complex polyallelic variant SNP + indels
We find multiple entries at the same position with the same pair of alleles after merge. I suspect that this happens at complex loci where there are overlapping indels and snvs but we see multiple simple substitution variants as well as duplicated indels.
We show the first 9 columns only. Look at chr14:53952388 as an example. Notice there are two A/C entries. We note your response to the now closed #2215 and no 'vertical' merging but shouldn't these have merged ?
We have a small test case we can share separately when you are ready to review.
Thanks.
The text was updated successfully, but these errors were encountered: