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Hello!
I'm trying to train the AI model with different inputs such as WGS, TITRATION, SYNTHETIC and FFPE. Im running SomaticSeq on a slurm cluster with singularity wherever possible.
I have had ma…
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I'm trying to install a local copy of squirls on my Ubuntu 22.04 machine. I don't know of a Squirls forum where I could post the error hence the decision to post it here. Please look at my CL output d…
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Hi, is it possible that the split and normalize transformers are significantly slower than `bcftools norm`?
We just tried splitting a large 190GB VCF file with 800 samples from https://dataportal.a…
Hoeze updated
8 months ago
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Hello Veronique,
Hope you are doing great.
In annotations, I have noted that certain P_loss_coordinates are coming from Hg19 reference coordinates, despite I have provided the Hg38 mode in the …
Mkddb updated
7 months ago
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On a recently rerun case (`quicktapir`), added VCFs since last MIP version (MEI) were found missing. They are present in the CG-generated scout load config, so presumably the issue is with scout load.…
dnil updated
10 months ago
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### Need
We would like to start annotating variants in Balsamic using the Loqusdb somatic and germline exported observations.
### Suggested approach
A method for annotating variants has been…
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Hi Chisel developers!
I am running chisel_nonormal with phased SNPs from matching germline WES data. However, it looks like the chisel_nonormal pipeline does not seem to use these for BAF estimatio…
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## Keyword: efficient
### End-to-end codesign of Hessian-aware quantized neural networks for FPGAs and ASICs
- **Authors:** Javier Campos, Zhen Dong, Javier Duarte, Amir Gholami, Michael W. Mahoney,…
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Dear pjgreer,
I am working on WES GWAS and rare variants analysis.
I've been comparing your scripts and the ones from dnanexus/UKB_RAP and I've noticed some differences.
I'm uncertain if the '03-G…
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An issue has come up defining phasing of SVs. The SV phasing model needs to define an ordering of phased variants otherwise the haplotype would be ambiguous (e.g. a duplication has two SNPs, one on th…