Question: DiscoSNP++ 2.2.X VCF calls a A to an A SNP
1
gravatar for laeb
11 months ago by
laeb60
laeb60 wrote:

I also posted you your github issues. Basically the VCF has a this line:

NC_001136.10 410323 1755 A A . PASS Ty=SNP;Rk=0.073173;UL=77;UR=471;CL=.;CR=.;Genome=A;Sd=1 GT:DP:PL:AD:HQ 0/1:167:1138,17,1238:86,81:68,67 0/1:172:1427,21,1028:76,96:67,68

If I am interpreting that correctly then thats a SNP where REF is A and ALT is also A. Why is that called as SNP?

discosnp • 546 views
ADD COMMENTlink modified 10 months ago by pierre.peterlongo720 • written 11 months ago by laeb60
0
gravatar for miguel
11 months ago by
miguel0
miguel0 wrote:

Same issue here, the resulting VCF will still pass VCF validation, but causes issues when you try to run an index

ADD COMMENTlink written 11 months ago by miguel0
0
gravatar for Beuss
11 months ago by
Beuss80
France
Beuss80 wrote:

Same issue here also. Some explanations would be appreciate. Thanks.

ADD COMMENTlink written 11 months ago by Beuss80
0
gravatar for pierre.peterlongo
10 months ago by
France
pierre.peterlongo720 wrote:

Hello all, Sorry for this very late answer.

This is a strange unknown behaviour. Laeb, would you mind finding this variant in the ..._coherent.fa file (finding the variant id 410323) and showing this here so we could understand the issue?

Pierre

ADD COMMENTlink written 10 months ago by pierre.peterlongo720

I believe its these two lines:

SNP_higher_path_1755|P_1:108_A/T|high|nb_pol_1|left_unitig_length_77|right_unitig_length_471|C1_86|C2_76|Q1_68|Q2_67|G1_0/1:1138,17,1238|G2_0/1:1427,21,1028|rank_0.073173 taatgcagtgggcattatcgatgatgtaaccattcacacaggttatttagcttttgatccttgaaccattaattaacCCAGAAATAGAAATTACCCAAGTGGGGCTCTCCAACACAATGAGAGGAAAGGTGACTTTTTAAGGGTGCCAGACCCTGTTAAAAACCTTTGATGGCTATGTATTTTACAGTAAATTAAGTGCAAACATGTAAGTAAGCTTCTCAGTAAAAACCATACAAACATTGGGCGTGTGGCGTAGTCGGTAGCGCGCTCCCTTAGCATGGGAGAGGTCTCCGGttcgattccggactcgtccaaattattttttactttccgcggtgcggagatgcggacgtggccaactctgtctgccgtcgcaaaatgatttgaattttgcgtcgcgcacgtttctcatgtacatataataagtattttcatacagttctagcaagacgaggtggtcaaaatagaagcgtcctatgttttacagtacaagacagtccatactgaaatgacaacgtacttgacttttcagtattttctttttctcacagtctggttatttttgaaagcgcacgaaatatatgtaggcaagtattttctgagtctgctgacctctaaaattaatgctattgtgcaccttagtaacccaaggcaggacagttaccttgcgtggtgttactatggccggaagcccgaaagagttatcgttactccgattattttgtacagctgatgggaccttgccgtcttcattttttttttttt SNP_lower_path_1755|P_1:108_A/T|high|nb_pol_1|left_unitig_length_77|right_unitig_length_471|C1_81|C2_96|Q1_67|Q2_68|G1_0/1:1138,17,1238|G2_0/1:1427,21,1028|rank_0.073173 taatgcagtgggcattatcgatgatgtaaccattcacacaggttatttagcttttgatccttgaaccattaattaacCCAGAAATAGAAATTACCCAAGTGGGGCTCTCCAACACAATGAGAGGAAAGGTGACTTTTTAAGGGTGCCAGACCCTGTTAAAAACCTTTGATGGCTATGTATTTTACTGTAAATTAAGTGCAAACATGTAAGTAAGCTTCTCAGTAAAAACCATACAAACATTGGGCGTGTGGCGTAGTCGGTAGCGCGCTCCCTTAGCATGGGAGAGGTCTCCGGttcgattccggactcgtccaaattattttttactttccgcggtgcggagatgcggacgtggccaactctgtctgccgtcgcaaaatgatttgaattttgcgtcgcgcacgtttctcatgtacatataataagtattttcatacagttctagcaagacgaggtggtcaaaatagaagcgtcctatgttttacagtacaagacagtccatactgaaatgacaacgtacttgacttttcagtattttctttttctcacagtctggttatttttgaaagcgcacgaaatatatgtaggcaagtattttctgagtctgctgacctctaaaattaatgctattgtgcaccttagtaacccaaggcaggacagttaccttgcgtggtgttactatggccggaagcccgaaagagttatcgttactccgattattttgtacagctgatgggaccttgccgtcttcattttttttttttt

ADD REPLYlink written 10 months ago by laeb60

Thanks for the input. We are currently working on this issue. We keep you in touch as soon as we have news. Pierre

ADD REPLYlink written 10 months ago by pierre.peterlongo720
0
gravatar for pierre.peterlongo
10 months ago by
France
pierre.peterlongo720 wrote:

This issue was certainly due to a very rare case in which the two paths of a variant map the same locus but with very distinct alignment. A fix is proposed in the commit from today: 4dda977dd7f357557e9b91b5fecae71e8606fab0 https://github.com/GATB/DiscoSnp/commit/4dda977dd7f357557e9b91b5fecae71e8606fab0

Pierre

ADD COMMENTlink written 10 months ago by pierre.peterlongo720

Thanks. I will try the commit and see if it solves the issue. Again thank you for a great tool.

ADD REPLYlink written 10 months ago by laeb60
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