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We currently generate terms from templates using spreadsheets. For example, a term for 'increased blood glucose' generated using the template described in Figure 10a labs, can be specified by a row in…
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In documentation:
It is possible to run permGWAS2 for several phenotypes located in the same phenotype file one after another. You can either specify a list of phenotypes or run permGWAS2 for all a…
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Talked to K and she was interested how phenotype matching then resulted in matching to genes - and if the hierarchy of HPO hierarchy had any affect on that.
The existing doc
https://variantgrid.re…
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## Overview
I found one instance where there is an association with multiple mapping keys in `morbidmap.txt`.
```tsv
Phenotype Gene Symbols MIM Number Cyto Location
Neurodevelopmental disorder w…
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When installing the module I see the following errors:
```
$ drush en rawpheno
The following extensions will be enabled: rawpheno
Do you really want to continue? (y/n): y
CRITICAL (RAW PHENOTYPES…
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To start sorting out the disease vs phenotype business, we suggest the following plan:
1. Update our HPO - Mondo mapping by running the OAK lexmatch matching pipeline to HPO.
2. Implement a review…
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### Figure 1 | The SysNDD Concept, Curation Approach, and Tools
**Description:** This figure should illustrate the overall concept of SysNDD, including its purpose, the curation process, and the tool…
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Hi Team,
Appreciate if someone can advise me on this issue:
**Previous steps:**
1. SNP and COG association with fixed effects model
**Pyseer having issue:** K-mer association with mixed effec…
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The Phenoscape KB allows querying for evolutionary phenotype profiles that share semantic similarity with the phenotypic profile of a query gene. These evolutionary phenotype profiles are assigned to …
hlapp updated
8 years ago
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wen agreeing on the template final version