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Seqr currently allows you to run searches across multiple families from multiple projects. This is especially useful now that we have families with exome data in one project and genome data in another project. We can simultaneously run variant searches across the two projects, but they are run independently, returning variants that match the filters in either project. As far as I'm aware, there is no option for returning variants that are in both projects only. It uses 'OR' by default but we need an 'AND' option.
For example, lets say patient X and patient Y are both affected individuals in the same family Z. Patient X has exome data, patient Y has genome. There will be two family Zs within two different projects. We can select family Z from both projects in the variant search menu and select the filters we would like to use. It will then return variants found in patient X or patient Y. Lets say there were 100 variants returned: 40 were found only in patient X, 40 were found only in patient Y and 20 variants were found in both patient X and Y. For the purposes of finding the causative variant, we only want to return the 20 variants we can see in both patient X and Y. Currently, I would need to manually look at all 100 variants to determine which variants appear in both X and Y.
From a user perspective, it would be helpful to have a tick box with something like 'search as a single family' (as opposed to two separate families) or 'families are related' that you can select if you want to perform an 'AND' search instead of an 'OR' search. See screenshot for suggestion.
Let me know if you need me to clarify further. Thanks!
The text was updated successfully, but these errors were encountered:
SamBryen
changed the title
Search across two different projects for common
Search across two different families for variants in both families
Nov 4, 2022
Seqr currently allows you to run searches across multiple families from multiple projects. This is especially useful now that we have families with exome data in one project and genome data in another project. We can simultaneously run variant searches across the two projects, but they are run independently, returning variants that match the filters in either project. As far as I'm aware, there is no option for returning variants that are in both projects only. It uses 'OR' by default but we need an 'AND' option.
For example, lets say patient X and patient Y are both affected individuals in the same family Z. Patient X has exome data, patient Y has genome. There will be two family Zs within two different projects. We can select family Z from both projects in the variant search menu and select the filters we would like to use. It will then return variants found in patient X or patient Y. Lets say there were 100 variants returned: 40 were found only in patient X, 40 were found only in patient Y and 20 variants were found in both patient X and Y. For the purposes of finding the causative variant, we only want to return the 20 variants we can see in both patient X and Y. Currently, I would need to manually look at all 100 variants to determine which variants appear in both X and Y.
From a user perspective, it would be helpful to have a tick box with something like 'search as a single family' (as opposed to two separate families) or 'families are related' that you can select if you want to perform an 'AND' search instead of an 'OR' search. See screenshot for suggestion.
Let me know if you need me to clarify further. Thanks!
The text was updated successfully, but these errors were encountered: