Entering edit mode
5.7 years ago
cocchi.e89
▴
290
I am working with 1000 genomes VCF files that I need to annotate with some patients files, I noticed that some variants are annotated as structural variants, with indication <CN[number-of-CN]>.
I was wondering if I can reconvert these variants to INDEL format, e.g.
*22-16050654 A <CN0> [...]*
could become:
*22-16050654 A . [...] ?*
Or:
*22-16050654 A <CN4> [...] ***-->*** 22-16050654 A AAAAA [...]*
Or it would bring to some conceptual error? Otherwise don't I risk to miss some INDELs? Thanks a lot in advance for any help!
How were the structural variants called? - look up the respective program's documentation in order to find the correct interpretation of CN=0. Assuming it is deletion, I see no major issue in re-formatting it as an indel, but you have to state this in your methods.