Neoloopfinder doesn't find loops and assemblies that I think it should
auberginekenobi opened this issue · 1 comments
H Xiaotao, great tool filling an urgent unmet need.
I am running neoloopfinder on the following SVs:
<MB268.simpleSVs.txt>
chr1 chr1 ++ 198179654 205207358 translocation
chr1 chr1 -- 198993881 198984836 translocation
chr1 chr1 +- 198993807 194206139 translocation
As you may be able to tell, these breakpoints form a cycle, and indeed this is the location of an ecDNA in this sample. Therefore I would expect a connected assembly to be called by assemble-complexSVs
:
assemble-complexSVs -O ${SAMPLE}_${NORM}.$RES -B $SIMPLESVS -H $COOL \
--minimum-size 0 --nproc $SLURM_CPUS_PER_TASK --region-size 12000000 \
--balance-type $NORM
<Expected.assemblies.txt>
A0 translocation,1,198993881,-,1,198984836,- translocation,1,198993807,+,1,194206139,- 1,205210000 1,198180000
C0 translocation,1,198993881,-,1,198984836,- 1,205210000 1,198990000
C1 translocation,1,198993807,+,1,194206139,- 1,198980000 1,198180000
C2 translocation,1,198179654,+,1,205207358,+ 1,194210000 1,198990000
<Actual.assemblies.txt>
C0 translocation,1,194206139,-,1,198993807,+ 1,195310000 1,198170000
C1 translocation,1,198179654,+,1,205207358,+ 1,198120000 1,204190000
It appears that assemble-complexSVs filters the chr1 chr1 -- 198993881 198984836 translocation
breakpoint and then fails to form any connected assembly.
Furthermore, if I run neoloop-caller
on the Expected.assemblies.txt
, the algorithm calls cis-loops within individual segments, but does not call any trans-loops or attribute any loops to the A0 assembly:
How would I go about applying Neoloopfinder to my ecDNA+ HiC data?
Hi, thanks for your interest! The current complex SV assembling pipeline applies a set of relative stringent criteria to make sure every local assembly have smooth distance decay pattern of Hi-C contact frequencies across the breakpoint. And currently, the pipeline does not support the detection of circular DNA. But I do have plans to add this function in the next major version which might come out in the next a few months. I will keep you posted!