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Hello,
I encountered the following error when running DumpSTR on a vcf produced by GangSTR that had only chrX calls for 3 samples. Two of the samples are female and have 2 comma separated values in…
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In the pre-computed estimates we should remove "risk factor" or " Conflicting classifications of pathogenicity, other, risk factor" or "benign" variants from being included
![image](https://github.…
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Hi @lgeistlinger would you mind giving the package a first-look and provide me with any edits you may have please?
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Hi, I've been trying to use MToolbox for a while. I have latest version and reinstaled everything at least two times.
I have tried with my own bam file, solving problem by problem until I reached a…
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Gather observations from literature on how strains and antigen types within strains compete and are affected by immunity.
Should be some overlap with Philip's initial 1.0 mechanism for search in var…
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We are looking to add a module that provides basic sequence ontology terms for variant validator, a user story and more detail is listed below:
**User:**
•Clinical Scientists
•Research Scientists
…
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### Background
Following Variation Set discussions at the Boston Plenary, it was decided that VR will only provide a model for **static** Variation Sets - as simple objects holding just an enumerated…
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Hi,
I have a trio where the father and daughter are both compound heterozygous for the known causal gene (autosomal) but Exomiser is not prioritizing the gene. When I run with the daughter alone, …
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I'm hitting this repeatedly when trying to load VCFs that have been merged via `bcftools merge` then normalized and decomposed via `vt` and then annotated via `vcfanno`. Note that each of these had b…
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https://github.com/Illumina/SpliceAI