Error in output format: the variantFrequencies field of the samples
algarsi3 opened this issue · 1 comments
algarsi3 commented
I annotated the "getting started" with the following command:
dotnet bin/Release/netcoreapp3.1/Nirvana.dll \
-c Data/Cache/GRCh37/Both \
--sd Data/SupplementaryAnnotation/GRCh37 \
-r Data/References/Homo_sapiens.GRCh37.Nirvana.dat \
-i HiSeq.10000.vcf.gz \
-o HiSeq.10000
When I tried to parse the variants to json in Python, I found the following variant:
{"chromosome":"chr1","position":309,"refAllele":"C","altAlleles":["T"],"quality":0,"filters":["FDRtranche2.00to10.00+"],"strandBias":-5001,"mappingQuality":2112,"cytogeneticBand":"1p36.33","samples":[{"genotype":"0/1","variantFrequencies":[0,0804],"totalDepth":32,"alleleDepths":[103,9]}],"variants":[{"vid":"1-309-C-T","chromosome":"chr1","begin":309,"end":309,"refAllele":"C","altAllele":"T","variantType":"SNV","hgvsg":"NC_000001.10:g.309C>T","gerpScore":0}]},
Which corresponds to the following variant in the original file:
chr1 309 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=153.70;MQ=21.12;MQ0=35;OQ=53.98;QD=0.46;SB=-50.01 GT:AD:DP:GL:GQ 0/1:103,9:32:-18.33,-9.64,-96.32:86.82
Python throws an error because of the following field: "variantFrequencies":[0,0804]
I assume that the correct value should be 0.0804 with a .
rather than a ,
.
rajatshuvro commented
Thanks for pointing this out. We will work on it.