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I used Delly for the detection of SVs in a cohort of WGS horses data, 24 samples totally.
In the results we have a number of translocations and we cannot understand how it can be interpreted.
I see, that it's translocation Chr31--> ChrX. But how long is it? For me it looks like 1 only nucleotide (start is ChrX:144593, END=144594).
But we have a big deletion in the same region (ChrX:133262-674011), which is in ChrX in our samples, but the part of that region (a few genes) is annotated as Chr31 in reference genome:
So, as I understand, that it can be only if the translocation BND00085733 is covered the big region of these deletion.
And it's again the question about the length of the translocation.
And next, we have a lot of translocations in close regions, for example for the start of ChrX:
Hi,
I used Delly for the detection of SVs in a cohort of WGS horses data, 24 samples totally.
In the results we have a number of translocations and we cannot understand how it can be interpreted.
For example, we have this translocation:
ChrX 144593 BND00085733 G ]Chr31:58386]G 1357 PASS CIEND=-53,53;CIPOS=-53,53;CHR2=Chr31;POS2=58386;END=144594;PE=53;MAPQ=23;CT=5to3;IMPRECISE;SVTYPE=BND;SVMETHOD=EMBL.DELLYv1.1.6 GT:GL:GQ:FT:RC:RCL:RCR:RDCN:DR:DV:RR:RV 0/0:0,-5.70365,-92.7841:57:PASS:33196:10931:22265:2:19:0:0:0 0/0:0,-1.70861,-25.3024:17:PASS:7555:2282:5273:2:6:0:0:0 0/0:0,-4.81518,-73.9987:48:PASS:19184:6147:13037:2:16:0:0:0 0/0:0,-6.30303,-107.581:63:PASS:21609:6490:15119:2:21:0:0:0 0/1:-47.2571,0,-334.732:10000:PASS:71153:17317:53836:2:76:73:0:0 0/1:-55.6442,0,-141.843:10000:PASS:62019:13961:48058:2:38:68:0:0
I see, that it's translocation Chr31--> ChrX. But how long is it? For me it looks like 1 only nucleotide (start is
ChrX:144593
,END=144594
).But we have a big deletion in the same region (
ChrX:133262-674011
), which is in ChrX in our samples, but the part of that region (a few genes) is annotated asChr31
in reference genome:ChrX 133262 DEL00085723 A <DEL> 224 PASS CIEND=-21,21;CIPOS=-21,21;END=674011;PE=5;MAPQ=8;SRMAPQ=60;SR=4;SRQ=0.967532;CONSENSUS=CGAGGGATGAGAGATAGATGGACAAATGGACAGACAGATAGGTAGACGGATAGATAGATAGAAGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGACGGACGGACGGACGGACGGACGGATGGATAGATGGA;CE=1.75053;CT=3to5;PRECISE;SVTYPE=DEL;SVMETHOD=EMBL.DELLYv1.1.6;INSLEN=0;HOMLEN=30 GT:GL:GQ:FT:RC:RCL:RCR:RDCN:DR:DV:RR:RV 0/1:-3.03989,0,-6.33169:30:PASS:24646:15610:16262:2:6:0:5:3 0/1:-1.41671,0,-2.39909:14:LowQual:5441:3133:3015:2:1:0:2:1 0/1:-7.28711,0,-2.50107:25:PASS:13433:8461:8079:2:4:0:3:4
So, as I understand, that it can be only if the translocation
BND00085733
is covered the big region of these deletion.And it's again the question about the length of the translocation.
And next, we have a lot of translocations in close regions, for example for the start of ChrX:
For me it looks like it's 1 nucleotide only translocations (?)
Do I need to filter out these translocations in some way or are all of them actual?
Thank you for the help!
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