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Is it possible to give gvcfgenotyper a list of chromosome positions to genotype GVCFs at? For example I have two sets of samples joint genotyped using gvcfgenotyper. Some variants are only present i…
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Hello,
I have the issue that two obvious variations are not called. This is WGS nanopore sequencing of a transgenic mouse. The region in question is alien sequence (human for the most part) that wa…
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Assignment instructions:
- [x] Align the reads to hg19 build 37 genome
- [x] Generate quality statistics from the fastq or bam file using your tool of choice.
- [x] Call variants for the regions in…
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What version of RefSeq database is downloaded/used in the annotation cache when executing: `dotnet Downloader.dll --ga GRCh37 -o Data`? Is there a way to control/leverage a specific transcript databas…
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There is several tutorials that would need some ❤️
Most of the changes are newcomer-friendly 😄
We created a checklist of the possible contributions on the tutorials: https://galaxyproject.github…
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This issue contains monthly updates to an automatically ranked list of PubMed papers as candidates for curation in the Bioregistry. Papers may be relevant in at least three ways:
(1) as a new prefix…
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Sometimes, but quite often indeed, VV returns results that are totally unrelated from the initial query.
For example, today I submitted this query using the swagger UI at https://rest.variantvalida…
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/* --- PROJECT - VARIANT PREDICTION IN CYP2D6--- */
Investigate CYP2D6 Pharmacogenetic Variation:
- Involved in metabolism of nearly 25% of clinically prescribed medications
- Highly polymorphi…
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Compiling a master list of workflows and environments for the Basel Testbed here. Once we get some of the basic information, we can add some more description/metadata.
### Workflows:
+ **TOPMed*…
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Hello, I am grateful to this library!
I would appreciate it if you would add a support for brush on multiple chromosomes since I would like to provide an interface to select the position from multi…