Current guidance for using preprints in gene curation
It has recently come to our attention that the National Library of Medicine has been piloting the use of Pubmed PMIDs for preprints from certain servers (bioRxiv, medRxiv, others).
Adding preprints as evidence to the GCI via PMIDs was never an intended use case of the current GCI’s PMID functionality. Addition of evidence via PMID is intended for peer-reviewed published evidence only.
Until the NLM pilot is guaranteed to be supported past the pilot phase, we are asking all users: please do not add PMIDs belonging to preprints to the GCI.
If a preprint contains data that is deemed clinically relevant for curation by expert panels:
If scoreable: Note that the use of preprint data as evidence should be an extremely rare use case included at the GCEP’s discretion. Include preprint data in the evidence summary and manually adjust the classification if it is impacted by the inclusion of preprint evidence.
If non-scoreable: please do not include the pre-print data in the evidence summary.
We plan to develop support for the addition of preprints as evidence via DOIs (not PMIDs), and will share updated guidance about this feature in a future version of the GCI.
To add a peer-reviewed, published PubMed article to the Gene-Disease record, click the “+ Add” button next to "Select Evidence Source" in the curation panel.
Enter the PMID into the selection screen that appears and click the “Retrieve Evidence Source” button.
Based on the PMID entered, the authors, title, and citation details will be retrieved. If these details are correct, add that PMID to the Gene-Disease Record by clicking the “Add Evidence Source” button. The PMID will now appear in the Curation Central view for that Gene-Disease Record. Additional articles can be added to the Gene-Disease Record in the same way.
All articles that have been added to the record can be found in a scrollable Evidence Source panel on the left-hand side, with all authors, title, citation details, and PMID shown for each article. By default, a newly added article will be the one selected for curation, as indicated by a blue border. To select a different article for curation, click on that article in the left-hand panel.
The evidence curation panel on the right-hand side provides access to curation resources for adding Genetic and Experimental Evidence from the selected article.
The central panel shows additional details about the selected article, including the full abstract and a link to PubMed. In addition, the panel provides space to enter notes on evidence in the paper that could not be scored, as well as for any other comments you might want to make. If the article provides the earliest report of a connection between the gene and the disease, select the button next to the "This is the earliest report..." text.
Select the "Save" button to save the notes and selection. If the notes need to be edited, select the "Edit" button, which will return the panel to the editable state.
Once a publication has been added to a Gene-Disease Record, it can currently not be deleted from that record.