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echo"Exiting $0 script without having phASER ran. ev = 0"1>&2
exit 0
fi
Example of edge case:
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NORMAL TUMOR
chr14 50978766 . G T . PASS SOMATIC;QSS=60;TQSS=1;NT=ref;QSS_NT=60;TQSS_NT=1;SGT=GG->GT;DP=115;MQ=59.97;MQ0=0;ReadPosRankSum=1.22;SNVSB=0;SomaticEVS=7.38 GT:DP:FDP:SDP:SUBDP:AU:CU:GU:TU:AR:AD 0/0:21:0:0:0:0,0:0,0:21,21:0,0:0:21,0 0/1:94:6:0:0:0,0:0,0:81,87:7,7:0.0795:81,7
chr14 50978767 . T TG . PASS SOMATIC;QSI=47;TQSI=1;NT=ref;QSI_NT=47;TQSI_NT=1;SGT=ref->het;MQ=59.96;MQ0=0;RU=G;RC=0;IC=1;IHP=18;SomaticEVS=6.74 GT:DP:DP2:TAR:TIR:TOR:DP50:FDP50:SUBDP50:BCN50:AR:AD 0/0:19:19:20,20:0,0:0,0:25.1:0.58:0:0:0:20,0 0/1:90:90:71,73:14,14:9,7:100.19:4.93:0:0.04:0.1647:71,14
This is a SNV followed by an indel; phASER excludes the indel and only the snv remains which is not part of a block anymore --> Therefore phASER fails.
Let's think about any other potential edge case that the phASER tool could be grumpy about and fails because it does not handle single lines after removing or not dealing with the indels anymore.
The text was updated successfully, but these errors were encountered:
Do we have a picture of the actual event? is the indel in phase or not, if we are not able to phase indels, then shouldn't preprocess just drop all lines with indels before looking for potential block variants where two consecutive vcf lines are one bp apart to send to phaser. Short if indels are a known phaser limitation why are they not prefiltered
We do not phase indels.
Phaser takes care of indels by excluding them itself; that is why they were not pre-filtered; Because it avoided us to add more coding lines and creating more intermediate files, we were letting phASER doing the work.
With this edge case, it appears we can not let phASER do the work as phASER does not handle correctly the remaining orphan lines when two consecutives lines involve a SNV followed by an InDel.
The solution is to prefilter the indels out. We have been working on it and implemented it.
Tests of modifications in progress.
vcfMerger2/prep_vcfs_somatic/strelka2/strelka2.phasing_consecutives_variants_as_blocs.sh
Lines 197 to 206 in 8ed9a05
Example of edge case:
This is a SNV followed by an indel;
phASER
excludes theindel
and only thesnv
remains which is not part of a block anymore --> ThereforephASER
fails.Let's think about any other potential edge case that the
phASER
tool could be grumpy about and fails because it does not handle single lines after removing or not dealing with theindels
anymore.The text was updated successfully, but these errors were encountered: