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I have been using Michigan server to impute HLA variants on Four-digital V2 panel, while I notice that there are some ""duplicated" Amino Acids that only differ with an extra "." , I checked it in the vcf.gz file with an example below.
6 29910732 AA_A_67_29910732_exon2_. A T . PASS
6 29910853 AA_A_67_29910732_exon2_.M A T . PASS
6 29910854 AA_A_67_29910732_exon2_.V A T . PASS
6 29910855 AA_A_67_29910732_exon2_.x A T . PASS
6 29910856 AA_A_67_29910732_exon2_M A T . PASS
6 29910857 AA_A_67_29910732_exon2_V A T . PASS
6 AA_A_67_29910732_exon2_. 0 29910732 T A
6 AA_A_67_29910732_exon2_.E 0 29911059 T A
6 AA_A_67_29910732_exon2_.M 0 29911061 T A
6 AA_A_67_29910732_exon2_.V 0 29911062 T A
6 AA_A_67_29910732_exon2_.x 0 29911065 T A
6 AA_A_67_29910732_exon2_EM 0 29911067 T A
6 AA_A_67_29910732_exon2_EV 0 29911068 T A
6 AA_A_67_29910732_exon2_Ex 0 29911070 T A
6 AA_A_67_29910732_exon2_M 0 29911071 T A
6 AA_A_67_29910732_exon2_MV 0 29911074 T A
6 AA_A_67_29910732_exon2_Mx 0 29911076 T A
6 AA_A_67_29910732_exon2_V 0 29911079 T A
6 AA_A_67_29910732_exon2_Vx 0 29911080 T A
6 AA_A_67_29910732_exon2_x 0 29911082 T A
I'm really confused about this. Are they just simple duplicates? Or is there another explanation? Could you please give me suggestion? Thank you so much!
The text was updated successfully, but these errors were encountered:
Hi,
I have been using Michigan server to impute HLA variants on Four-digital V2 panel, while I notice that there are some ""duplicated" Amino Acids that only differ with an extra "." , I checked it in the vcf.gz file with an example below.
6 29910732 AA_A_67_29910732_exon2_. A T . PASS
6 29910853 AA_A_67_29910732_exon2_.M A T . PASS
6 29910854 AA_A_67_29910732_exon2_.V A T . PASS
6 29910855 AA_A_67_29910732_exon2_.x A T . PASS
6 29910856 AA_A_67_29910732_exon2_M A T . PASS
6 29910857 AA_A_67_29910732_exon2_V A T . PASS
AF=0.00058;MAF=0.00058;R2=0.26863;IMPUTED GT:DS:HDS:GP 0|0:0:0,0:1,0,0
AF=0.14789;MAF=0.14789;R2=0.99169;IMPUTED GT:DS:HDS:GP 0|0:0:0,0:1,0,0
AF=0.85273;MAF=0.14727;R2=0.99495;IMPUTED GT:DS:HDS:GP 1|1:2.000:1.000,1.000:0.000,0.000,1.000
AF=0.00059;MAF=0.00059;R2=0.26606;IMPUTED GT:DS:HDS:GP 0|0:0:0,0:1,0,0
AF=0.14737;MAF=0.14737;R2=0.99398;IMPUTED GT:DS:HDS:GP 0|0:0:0,0:1,0,0
AF=0.85210;MAF=0.14790;R2=0.99156;IMPUTED GT:DS:HDS:GP 1|1:2.000:1.000,1.000:0.000,0.000,1.000
As we can see, the Estimated Alternate Allele for AA_A_67_29910732_exon2_.V and AA_A_67_29910732_exon2_V are both TT.
I also checked a reference file you pasted in the Issues #15.
https://github.com/immunogenomics/HLA-TAPAS/blob/master/resources/wgsMHC.4digit.bglv4.bim (4-digit)
6 AA_A_67_29910732_exon2_. 0 29910732 T A
6 AA_A_67_29910732_exon2_.E 0 29911059 T A
6 AA_A_67_29910732_exon2_.M 0 29911061 T A
6 AA_A_67_29910732_exon2_.V 0 29911062 T A
6 AA_A_67_29910732_exon2_.x 0 29911065 T A
6 AA_A_67_29910732_exon2_EM 0 29911067 T A
6 AA_A_67_29910732_exon2_EV 0 29911068 T A
6 AA_A_67_29910732_exon2_Ex 0 29911070 T A
6 AA_A_67_29910732_exon2_M 0 29911071 T A
6 AA_A_67_29910732_exon2_MV 0 29911074 T A
6 AA_A_67_29910732_exon2_Mx 0 29911076 T A
6 AA_A_67_29910732_exon2_V 0 29911079 T A
6 AA_A_67_29910732_exon2_Vx 0 29911080 T A
6 AA_A_67_29910732_exon2_x 0 29911082 T A
I'm really confused about this. Are they just simple duplicates? Or is there another explanation? Could you please give me suggestion? Thank you so much!
The text was updated successfully, but these errors were encountered: