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Based on the R script I understand that after merging the genotype and phenotype files need to have a Genotype header, a phenotype header and content, and as they are merged on "ID" , both have to hav…
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We need some documentation about how to interpret data on our site. This easily lends itself to a FAQ. I think the FAQ should be broken up into several parts based on the primary data that can be ex…
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@Jeremy-Fries
Since we've discovered that the edges of the bins are likely to be filled, and in these cases our limits are likely incorrect, we need a function that analyzes which bins are full, and …
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### Description of the bug
The ped file cannot be created when outdir is an s3 path, leading to an error.
For example, defining `--outdir s3:/rarediseases-workspace/results/` with the test data gi…
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Hi,
I wonder if R rdflib supports path properties in sparql queries, e.g., '+', '*', '/', etc? For example, I tried few queries:
WHERE {
dry:phenotype_17956 rdfs:subClassOf/rdfs:subClassOf ?x . …
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IN the new version of normalization, there are about 25 identifiers that are not showing up in the final output for disease/phenotpyic feature.
```
DOID:0060320
DOID:0060321
DOID:0111946
DOID:1…
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Need a unit test for rendering KmPlot component, with different data types (phenotype, matrix, mutation, segmented). Use the react hooks to test rendering, as in the plotDenseMatrix test.
acthp updated
7 years ago
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Many of the data sources we support use multiple ontology terms per phenotype/disease.
An example is 'Jervell and Lange-Nielsen syndrome Type 2', terms: HP:0000007; HP:0001279; HP:0001657; HP:0000407…
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This is some feedback notes I took during the meeting with Jim and Jennifer from the TOPmed programme.
### OASIS toolip
In the OASIS table they have our favicon to indicate whether there is gene …
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It would be interesting to test out the profile matching when ALL pairwise phenotype matches (N Factorial matches above a threshold) are factored into the overall profile match score.
Eg, in the s…