Open GSgen opened 2 years ago
If the reference path has a cycle where it loops through the site multiple times, you will get a call for each loop. The site ID will remain the same, but the POS along the reference will be different.
Deconstruct only outputs what's in your graph. If the SNPs aren't represented as multiple bubbles in the graph, they will not be multiple bubbles in the VCF. If they are bubbles in the graph, you may have to go looking for them in a nested site using the LV and PS tags.
Thank you @glennhickey!
I am trying the latest vg/1.38.0 using:
vg autoindex \
-w giraffe \
-g smooth.gfa \
-p out\
-t 12 \
-R XG -V 1
vg gbwt \
-o out.gbwt \
-g out.gg \
-Z out.giraffe.gbz
vg snarls out.xg \
-a > out.snarls
vg deconstruct out.xg -d 2 -a -g out.gbwt -r out.snarls -p REFERENCE > deconstruct.vcf
But I am not sure if I can use something like -A Sample1 -A Sample2 -A Sample3
to get the calls based on REFERENCE as in previous vg versions. I am instead getting:
#CHROM | POS | ID | REF | ALT | QUAL | FILTER | INFO | FORMAT | 0 | 1 | 10 | 11 | 12 | 13 | 14 | 15 | 2 | 3 | 4 | 5
-- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | --
REFERENCE | 215 | >17>21 | TC | TT,TCTT | 60 | . | AC=8,4;AF=0.5,0.25;AN=16;AT=>17>18>21,>17>20>21,>17>18>19>20>21;NS=16;LV=0 | GT | 2 | 11 | | | | | | | | | |
REFERENCE | 225 | >21>24 | T | C | 60 | . | AC=8;AF=0.5;AN=16;AT=>21>22>24,>21>23>24;NS=16;LV=0 | GT | 0 | 0 | 0 | 1 | 10 | | | | | | |
REFERENCE | 731 | >39>42 | C | G | 60 | . | AC=8;AF=0.5;AN=16;AT=>39>40>42,>39>41>42;NS=16;LV=0 | GT | 0 | 1 | 0 | 1 | 1 | | | | | | |
Could you please help me direct the output? Thank you!
Hello,
I am using vgtools deconstruct as:
I have got the vcf file with SNPs and SVs. I am sharing example of three
SV
calls with sameID
.I want to interpret this output. I am trying to understand why different SV calls have same
ID >94>211
? I also want to understand why these variations are called asstructural variations
instead of calling multipleSNPs
as they have multiple point differences? Thank you!