Cohort Browser geno filters high impact variant with OR
Dear community,
I?m writing with regards to the gene filtering in cohort browser.
Once in projects > manage, I select appxxxxxx.dataset and the Cohort Browser opens
Then, I select: Add Filter > GENO > Gene/Effect
After that, I select: Variant Effect as High Impact
Until this point everything is fine but once arrived here, I encounter some limits.
In particular, I would like to find the samples with high impact variant in at least one of 10 genes.
From the options I see that:
- I am allowed to insert a maximum of 5 gene names
- The cohort will be selected using AND but I would like it to be selected using OR
Browsing online, I found this resource https://documentation.dnanexus.com/user/cohort-browser and I thought that ?join filter? could have been an option but it seems not to be applicable to the geno filters, only to the pheno ones.
Also, I watched some youtube videos about cohort filtering through R studio (https://www.youtube.com/watch?v=iy22sxlj5Ik ) Jupyter (https://www.youtube.com/watch?v=jodNjrYF8po ) but they do not show specific examples for this case.
I was wondering if you could please indicate me which is the best way to overcome these limits and retrieve successfully samples with high impact variant in at least one of 10 genes of interest.
Thank you in advance for the support,
Veronica Erconi
Comments
2 comments
1) From the options I see that:
--> you may try to contact ukbiobank-support@dnanexus.com and create a feature request for the DNAnexus team.
2) Also, I watched some youtube videos about cohort filtering through R studio (https://www.youtube.com/watch?v=iy22sxlj5Ik ) Jupyter (https://www.youtube.com/watch?v=jodNjrYF8po ) but they do not show specific examples for this case.
--> I have the same understanding. Perhaps the reason is that geno data is not ingested into the form of database. And you will need to process raw genomics files.
3) There is a recent thread showing the Hail functionality and how to analyze genomics data using Hail:
https://community.dnanexus.com/s/question/0D5t0000043xrVhCAI/hail-tutorial-and-example-notebooks-for-ukbrap-analysis
This is the place I would start with, in order to implement more advanced geno filters.
https://documentation.dnanexus.com/science/using-hail-to-analyze-genomic-data#annotate-genomic-data-using-hail-db
Please sign in to leave a comment.