You are creating a panel with various genes and instead of adding them one by one you want to upload them in a file? Do you want to curate multiple genes to your organization's knowledge base but it takes too much time?
You got to the right place! Let us walk you through our genes file template and explain all you need to know in order to upload a list of genes to a panel.
How to upload a genes file
In order to upload genes file to a panel, go to the panel and press the "Add" button. Select "Genes" and then "Upload genes file". A pop-up will open and you need to drop or browse your gene file here.
What needs to be in your genes file
The file needs to be a TSV file with the following column:
Gene symbol - The only mandatory field, should include gene name. For example CFTR, BRCA1, ABCA1.
Note: Because this is the only mandatory field, you can create a file that consists of only genes names and upload it to your panel.Summary - An open text field that includes your summary of gene curation. You can have only one summary for each gene.
Pseudogene - Whether the gene has a pseudogene or not. Possible values are: TRUE or FALSE.
Condition - An open text field that includes the name of a condition. All the following fields are referring to this condition.
If you want to curate multiple conditions for the same gene, you will need to create a row for each condition.Evidence Level - The level of certainty of the connection between the condition (field 4) and the gene. A single value from the following: limited, moderate, strong, definitive.
Phenotypes - Can contain multiple phenotypes separated by commas.
Age of Onset - Possible values are: prenatal, neonatal, congenital, infant, childhood, adulthood, adolescent, adult, elderly, all ages.
Can contain multiple values separated by commas.Inheritance Model - Possible values are: AR, AD, XL, XR, XD, DR, Mi, DI, TRI, XLR, ICB, SMu, YL.
Can contain multiple values separated by commas.Penetrance - A single value from the following: low, medium, high.
Mechanism of Disease - A single value from the following: gain, loss, dominant negative.
Imprinted Status - A single value from the following: maternally, paternally, both.
Reference Description - Free text, describing the reference link (field 4.i)
Reference Link - A valid link.
Notes - Free text for additional comments on the condition curation.
Tips & Tricks
You can download the examples of genes files and adjust them in order to create your own files.
You can use Google spreadsheet or Excel to create your data and then download it a .tsv file
To help you create your genes file you can take a look in our curation wizard - all fields in the genes file are correlated with our gene curation wizard:
Still have questions? Reach out to our Support Team, they'll be happy to help!