Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

added simple-event-annotation as a command line script #618

Open
wants to merge 1 commit into
base: master
Choose a base branch
from

Conversation

mnshgl0110
Copy link

Created a command line utility for simple-event-annotation that can be run using:

Rscript simple-event-annotation.R <PATH_TO_INPUT_VCF> <GENOME_NAME> <OUTPUT_PREFIX>

This script works directly on the output on GRIDSS and does not require any manual change.

@SunWinner01
Copy link

Hello, sorry to bother you. I encountered some issues while running this Rscript. I received the file, but it did not contain the expected columns. May I consult with you? Thank you very much! @mnshgl0110

@papenfuss
Copy link
Member

papenfuss commented Oct 10, 2024 via email

@SunWinner01
Copy link

Hello, thank you very much for your reply. The situation is as follows.
I have tested one of my .vcf generated by Gridss based on the script and commands you provided, but several warnings have appeared. The warnings are as follows:

Warning: ‘timedatectl’ indicates the non-existent timezone name ‘n/a’
Warning: Your system is mis-configured: ‘/etc/localtime’ is not a symlink
Warning: ‘/etc/localtime’ is not identical to any known timezone file
Warning message:
In .breakpointRanges(x, ...) :
Removing 4 unpaired breakend variants. Use inferMissingBreakends=TRUE to recover with inferred partner breakends. Missing breakends: gridss6ff_68h, gridss24bf_1064o, gridss30bb_198h, gridss53ff_234o

I want to know if this will have a negative impact on my .annotated.vcf? Is this considered normal?
However, despite the presence of warnings, I can still obtain the .annotated.vcf. By annotating on each line of the .vcf, some lines already have the SIMPLE.TYPE, but some lines still do not receive the SIMPLE.TYPE . How should I handle this situation?

NC_047559.1 9671 gridss0b_4b T .GGGTTAGGGT 262.13 LOW_QUAL ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=1X;ASQ=0;ASRP=0;ASSR=0;BA=1;BAQ=98.12;BASRP=2;BASSR=5;BEID=asm0-20871;BEIDH=-1;BEIDL=9;BMQ=30.5;BMQN=21;BMQX=51;BQ=262.13;BSC=7;BSCQ=72.39;BUM=4;BUMQ=91.61;BVF=6;CAS=0;CASQ=0;CQ=206.75;EVENT=gridss0b_4;IC=0;IQ=0;RAS=0;RASQ=0;REF=12;REFPAIR=0;RP=0;RPQ=0;SB=0.33333334;SC=1X;SR=0;SRQ=0;SVTYPE=BND;VF=0 GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF .:0.333:0:0:0:0:0:0:0:98.12:2:5:262.13:7:72.39:4:91.61:6:0:0:0:0:0:12:0:0:0:0:0:0
NC_047559.1 15934 gridss0f_3b G GTATAGTCTAGGGTATATCCCTGGGTTAAACCCGGGTATATCCTGGGTTTAACCCGGGTATACCCTGAGTTTATCCCGGGTTTAACCCGGGTATACCCTGGGTTTACCCCGGGTATACCCTGGGTTAAACCCGGGTATACCC. 289.37 LOW_QUAL ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=1X;ASQ=0;ASRP=0;ASSR=0;BA=1;BAQ=144.68;BASRP=3;BASSR=6;BEID=asm0-7;BEIDH=-1;BEIDL=0;BMQ=45.4;BMQN=23;BMQX=60;BQ=289.37;BSC=6;BSCQ=70.47;BUM=3;BUMQ=74.22;BVF=6;CAS=0;CASQ=0;CQ=289.37;EVENT=gridss0f_3;IC=0;IQ=0;RAS=0;RASQ=0;REF=113;REFPAIR=0;RP=0;RPQ=0;SB=0.5;SC=1X;SR=0;SRQ=0;SVTYPE=BND;VF=0 GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF .:0.05:0:0:0:0:0:0:0:144.68:3:6:289.37:6:70.47:3:74.22:6:0:0:0:0:0:113:0:0:0:0:0:0
NC_047559.1 16092 gridss0b_11b G .ATTAACATTATGTTGATGTAAGGAAAGTAACTTCATAAAATATATGTTGATGTCATTTTTGATAAGAGTAAAAAATGAGTATGTTTAACAACAAATATGAAAACTAATAAACGAATGATCTTTAAAATAAATTGTTG 310.09 ASSEMBLY_BIAS;LOW_QUAL;NO_RP;NO_SR ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=1X;ASQ=0;ASRP=0;ASSR=0;BA=1;BAQ=310.09;BASRP=0;BASSR=22;BEID=asm0-20878;BEIDH=-1;BEIDL=136;BMQ=59;BMQN=59;BMQX=59;BQ=310.09;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=16;CAS=0;CASQ=0;CQ=310.09;EVENT=gridss0b_11;IC=0;IQ=0;RAS=0;RASQ=0;REF=132;REFPAIR=1;RP=0;RPQ=0;SB=0.59090906;SC=1X;SR=0;SRQ=0;SVTYPE=BND;VF=0 GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF .:0.107:0:0:0:0:0:0:0:310.09:0:22:310.09:0:0:0:0:16:0:0:0:0:0:132:1:0:0:0:0:0
NC_047559.1 16238 gridss0f_5b G GTTAGGGTTAGGGTTAGGGTTAGGGTT. 98.9 LOW_QUAL ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=1X;ASQ=0;ASRP=0;ASSR=0;BA=1;BAQ=51.22;BASRP=2;BASSR=0;BEID=asm0-6;BEIDH=-1;BEIDL=137;BMQ=41;BMQN=32;BMQX=60;BQ=98.9;BSC=2;BSCQ=22.07;BUM=1;BUMQ=25.61;BVF=3;CAS=0;CASQ=0;CQ=121.9;EVENT=gridss0f_5;IC=0;IQ=0;RAS=0;RASQ=0;REF=426;REFPAIR=1;RP=0;RPQ=0;SB=0.5833333;SC=1X;SR=0;SRQ=0;SVTYPE=BND;VF=0 GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF .:0.006977:0:0:0:0:0:0:0:51.22:2:0:98.9:2:22.07:1:25.61:3:0:0:0:0:0:426:1:0:0:0:0:0
NC_047559.1 20255 gridss0fb_8o G G[NC_047559.1:20279[ 54.65 LOW_QUAL;NO_ASSEMBLY ANRP=0;ANRPQ=0;ANSR=0;ANSRQ=0;AS=0;ASC=1X3N1X;ASQ=0;ASRP=0;ASSR=0;BA=0;BAQ=0;BASRP=0;BASSR=0;BQ=0;BSC=0;BSCQ=0;BUM=0;BUMQ=0;BVF=0;CAS=0;CASQ=0;CIPOS=-2,2;CIRPOS=-2,2;CQ=54.65;EVENT=gridss0fb_8;HOMLEN=4;HOMSEQ=GGGT;IC=2;IHOMPOS=-2,18;IQ=54.65;MATEID=gridss0fb_8h;MQ=33.5;MQN=27;MQX=40;RAS=0;RASQ=0;REF=4;REFPAIR=0;RP=0;RPQ=0;SB=1;SC=81M1X3N1X;SR=0;SRQ=0;SVTYPE=BND;VF=2;SIMPLE_TYPE=DEL;SVLEN=-23 GT:AF:ANRP:ANRPQ:ANSR:ANSRQ:ASQ:ASRP:ASSR:BAQ:BASRP:BASSR:BQ:BSC:BSCQ:BUM:BUMQ:BVF:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ:VF .:0.333:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:0:2:54.65:54.65:0:4:0:0:0:0:0:2

In addition, I would like to ask why the GT in the .vcf is always "." and why there is no numerical value?
The above are all my questions. I sincerely hope to receive your reply. Thank you very much! @papenfuss

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

3 participants