phenopacket-format
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phenopackets
For fly, maybe @dosumis can help. a potential fly article: Differential Masking of Natural Genetic Variation by miR-9a in Drosophila. Justin J. Cassidy, Alexander J. Straughan, Richard W. Carthew. GENETICS...
We should discuss how to best represent variants. Probably we need something flexible like HGVS NM_123:c.-123C>T with various types that also work for chromosomes, microdeletions, and other sets of findings...
Related to https://github.com/phenopackets/phenopacket-format/pull/27#event-584313124 Algorithms that aggregate phenopackets with the aim of determining causal relationships need the ability to distinguish phenopackets that are the result of automatic entity recognition (eg. from...
In the paper we suggest that use of the International Consortium of Human Phenotype Terminologies is a suitable alternative to HPO. We should add an example and documentation supporting this....
Currently the JSON-Schema is purely derived. The procedure is to run SchemaGeneratorTest in the reference implementation. The Makefile in this repo copies this across. This is potentially confusing, things can...
We welcome any comments via github, this should be made more explicit in the intro. For non-github people, we should have either a list of email contacts, or a list.
https://github.com/phenopackets/phenopacket-format/wiki/Identifiers cc @balhoff hashes are problematic as they need quoted in yaml
Dependent on: https://github.com/monarch-initiative/monarch-app/pull/1212
Consider reviewing various documentation pages for consistency of tone and coverage. For example, the (https://github.com/phenopackets/phenopacket-format/wiki/Identifiers)[identifiers page] refers to a default JSON-LD context, which might or might not make sense for...
We have a few possibilities for sending people to: 1. the org -- https://github.com/phenopackets/ 2. the main format repo -- https://github.com/phenopackets/phenopacket-format 3. [Getting Started](https://github.com/phenopackets/phenopacket-format/wiki/Getting-Started) in the wiki (linked from the...