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With pgscatalog-utils==1.4.1, I'm getting a new error running `pgscatalog-combine` with ~20 PGSCatalog scores. One example of a score that's newly causing an error is PGS003581.
Output from new ver…
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In your "Fast and accurate genomic analyses using genome graphs" paper you use Mitty to simulate reads, but only from regions without masked reference sequence (repetitive regions). I'm just wondering…
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### Need
As a production bioinformatician I want to avoid handling failing samples as much as possible, and quite frequently samples fail QC-metrics that are then set to PASS regardless. It would be …
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First off, I have to say great job on the tool! I've played around with the practice data and now I'm very excited to try this tool out and show it to my laboratory. I've been evaluating ~10 tools fo…
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There appears to be an issue with the dataloader functionality where it seems to ignore the `Seq_length` parameter and just return a fixed length. See below for examples from the MAVE data.
```
fr…
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This is a follow up to #62 (which was on a shared academic HPC).
I've now tried to download/run `svviz2` from Linux machine where I have root privileges.
```
sudo apt install python3-pip
sudo…
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**Is your feature request related to a problem? Please describe.**
RefSeqFEs are now available
**Describe the solution you'd like**
We need to be able to map to RefSeqGenes in intergenic (between…
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Here's a reproducible example (reprex) to obtain licenses used for all hybrid journals covered by the [Open APC initiative](https://github.com/OpenAPC/openapc-de).
``` r
# required libraries
libr…
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Hello, I've run the somatic workflow in Strelka2 version 2.9.2 on a tumour-only-calling assay. But I get the error: "Requested indel error rates for sample index 1 when only 1 samples are defined", "F…
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Below we consider new names for what to date we have been calling 'Sequence-Level Variation' vs 'Post-Sequence Variation', and for what to date we have been calling 'Precise Variation' vs 'Bucket Vari…