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A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

Results 7 SMNCopyNumberCaller issues
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Hello, I carefully read through your SMN tool source code and I think your tool is fantastic. I can understand most of it, but I feel a bit confused about...

hello!! When I run "smn_caller.py --manifest depth_calling/tests/test_data/NA12885.bam --genome 19 --prefix NA12885 --outDir ./ --threads 2",the error " File "/public/home/donglijie/miniconda3/envs/smncnv/lib/python3.7/codecs.py", line 322, in decode (result, consumed) = self._buffer_decode(data, self.errors, final) UnicodeDecodeError:...

Hi, Thanks for the convenient tools!I have some confusion for the results. It can be seen that the total copy number of smn in the figure is about 1. The...

Hello, I successfully used smn_caller.py to get the results, I want to use smn_charts.py I drew a picture, but I got this error Here's my code: smn_charts.py -s /home/dell/project/muscle/WGS/SMNcopynumbercaller/SMN_try.json \...

Amazing little program! A few questions 1. The difference from raw to mapped was 81% from my Nebula results. There was a warning before finishing that stated low coverage, confidence...

SMNCopyNumberCaller is in our nextflow pipeline where we have a stub to collect the versions of each software include in the pipeline. It would be nice if `smn_caller.py` had a...