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These guys are really productive!
A current solution to MNV extraction:
https://github.com/macarthur-lab/gnomad_mnv
Described in:
https://www.biorxiv.org/content/biorxiv/early/2019/03/10/…
dnil updated
10 months ago
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Hi!
I have recently listened to an ESHG talk about annotating variants in 5'UTR. I found it very interesting and it is worth trying. Below you can find their GitHub page and publications.
[https…
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### Description of the bug
In `GATK4_POSTPROCESSGERMLINECNVCALLS`, the memory is handled in megabytes, but assigned to the java process in gigabytes.
See: https://github.com/nf-core/raredisease/bl…
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### Description of feature
Hi, our fastq.gz data provider sequences one sample within multiple lanes and flowcells, and more than one sample can be present in one concrete flowcell+lane combination. …
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### Description of feature
Deepvariant version 1.6.1 has support for haploid calls on the X and Y chromosome for males, https://github.com/google/deepvariant/blob/r1.6.1/docs/deepvariant-haploid-supp…
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### Description of the bug
In conf/modules/raredisease.config, the mode of exporting the created files is missing for the FASTQC and CREATE_PEDIGREE_FILE processes, so no files are exported from th…
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I tried to make a custumized coverage report for a gene (NR2E2, HGNC ID 7974)
I get a 0/0 transcripts ,see image
![image](https://github.com/user-attachments/assets/1198f716-bd9f-405e-9c8e-869…
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Cadd version 1.7 has been [released](https://github.com/kircherlab/CADD-scripts/tree/v1.7). Among other update the scoring now also uses information from protein language models. See paper [here](http…
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### Is your feature request related to a problem? Please describe
I've encountered a problem with the JVM Hotspot for GATK processes when multiple GATK processes are run on the same node in singulari…
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### Description of the bug
`vep_plugin_files` listed as optional parameter but pipeline won't run without it
### Command used and terminal output
```console
ERROR ~ No such variable: ch_vep_extra_f…