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EVA-2343 — Version 2.0.1: Improvements in evidence string duplication, PubMed references, string-to-ontology mapping #202

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merged 13 commits into from
Mar 15, 2021

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@tskir tskir commented Mar 10, 2021

Version 2.0.1 addresses three groups of issues. Issues highlighted in bold contain substantial discussions and are recommended for reading.

Evidence string duplication

Processing PubMed references

Handling string to ontology mappings

@tskir tskir added this to the v2.0.1 milestone Mar 10, 2021
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tskir commented Mar 10, 2021

@BaronKoy One change might be of particular interest to you: I have clarified in the manual curation documentation how to handle the case when you need to map a single disease string to multiple ontology terms. It's the “Note on multiple mappings” section in the step2-manual-curation.md file.

Co-authored-by: April Shen <april.tuesday@gmail.com>
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All looks good.

### Note on multiple mappings
Sometimes it is necessary to map a single source string to two or more ontology terms to fully represent the concept. For example, “Coronary artery disease/myocardial infarction” should be mapped both to http://www.ebi.ac.uk/efo/EFO_0001645 “Coronary artery disease” and to http://www.ebi.ac.uk/efo/EFO_0000612 “Myocardial infarction”.

To do this, **duplicate** the row containing the disease string, assign different mappings in each of the rows, and mark them both with an appropriate status. This will be handled downstream during export and evidence string generation.
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Is this true for all cases bringing context ? Like "susceptibility to" or "resistance to" or is it limited to a set of trait that are composed of two disease family ?

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Oh, that's a very good point. No, as of now it only applies to multiple disease terms. Semantic context would need to be addressed separately at some point in the future (requiring guidance from OT first on how to represent it).

I've added clarifications to the documentation: 12c1dcb

@tskir tskir merged commit 8f7856c into master Mar 15, 2021
@tskir tskir deleted the eva-2343-version-2-0-1 branch March 15, 2021 13:20
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