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Hi,
I am comparing different PRS methods as part of a larger project in different biobanks.
We are trying to come to a common set of reference SNPs to use, and wanted to start by using the HapM…
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The [VCF 4.4 spec](https://samtools.github.io/hts-specs/VCFv4.4.pdf) allows for an initial symbol indicating the phasing of the first allele. For example, `/0/1` is a valid genotype. This allows for p…
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For the ejp-rd data metadata model create the json files :
Create JSON for the following entities:
1. BiologicalSample
2. BiologicalSamplePatient
3. Catalog
4. Catalog\|BioBank
5. Catalog\…
S2Ola updated
4 years ago
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In a review session with Bruna, we discussed that we need to have a more clear definition of `hri:Study` and `dcat:Project` and understand their relation.
Some facts:
- In the current model, the…
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The full result table is not sortable at the moment. It would be user-friendly if the results could be sorted by clicking on headings (small arrows up and down for ASC/DESC, see https://support.rstudi…
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For the ejp-rd data metadata model create the json files :
Create JSON for the following entities:
1. BiologicalSample
2. BiologicalSamplePatient
3. Catalog
4. Catalog|BioBank…
S2Ola updated
4 years ago
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I am trying to use REGENIE to do burden/set tests with different masks based on variant predicted deleteriousness - much as you did in your main UK Biobank exomes paper.
For example, I thought that I…
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Instead of asking the user to download the LD matrices every time they need to run, e.g. `viprs`, we can leverage Zarr's APIs for cloud storage and read the matrices from a central repository on, e.g.…
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For the ejp-rd data metadata model create the json files :
Create RDF data model for the following entities:
1. BiologicalSample
2. BiologicalSamplePatient
3. Catalog
4. Catalog|BioBank
5. C…
S2Ola updated
4 years ago
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### How to Reproduce
- Sign in as superuser
- Import [it_emx_mrefnullable.xlsx](https://github.com/molgenis/molgenis/files/4133449/it_emx_mrefnullable.xlsx) using the 'Advanced data import' plugin
…