In this article, we’ll show you step-by-step how to link a publication to a variant, add a classification, and provide comments on a variant of interest.
Once you’ve found the variant of interest, click the Publications tab and then Link a publication, or click the Link Publication tab in the top toolbar.
You'll see the pop-up window shown below, where you can add the relevant details to link the publication. While DOIs are supported, PubMed IDs work more reliably.
Once you have found the relevant publication, you will be given the option to mark it as a functional study (used for ACMG rules PS3 and BS3) and claim authorship of the paper.
Next, add some details from the study about the variant of interest, such as claimed pathogenicity or the mode of inheritance.
You can also add relevant phenotypes (All or OMIM) linked to the variant if mentioned in the paper.
Finally, you can add a comment to your entry. This is optional, however, it is helpful to add extra details about the publication to help other users understand the variant in context.
The publication will now appear in the Publications tab. Other users can comment on your entry (1), link and classify the variant (2), or like your linked publication if they agree with your findings.
To classify a variant, click the Classify button in the top toolbar.
This will open the pop-up window shown below. You should carefully select a classification for the variant. You have the option to add supporting evidence for your classification, such as additional variant information or associated phenotype.
If you are not providing supporting evidence, we strongly recommend you add a comment to your classification to provide context. Once you have added all the relevant information, click Finish.
Click the Community Contributions tab to get started. Scroll to the bottom of the page, where you’ll find a box to post your comment. This tab also lets users view and interact with others’ comments.
If you need any additional help, you can reach out to our support team at support@varsome.com. Otherwise, feel free to browse our Help Centre and FAQs.
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