Skip to content

Commit

Permalink
remove MolecularConsequences app
Browse files Browse the repository at this point in the history
  • Loading branch information
rhdolin committed Aug 22, 2024
1 parent 133aba9 commit ba82892
Show file tree
Hide file tree
Showing 2 changed files with 9 additions and 389 deletions.
19 changes: 9 additions & 10 deletions genomics-apps/README.md
Original file line number Diff line number Diff line change
Expand Up @@ -12,7 +12,7 @@ Uses:
## Get Variants
https://getvariants.streamlit.app/

Enter patient and gene, and get back all overlapping simple variants, structural variants, and genotypes.
Enter patient and gene, and get back all overlapping simple variants, structural variants, and genotypes.

Uses:
* get-feature-coordinates
Expand All @@ -38,21 +38,20 @@ Uses:
* find-subject-haplotypes
* find-subject-tx-implications

## Get Molecular Consequences
https://getmolecularconsequences.streamlit.app/
## Mendelian Screening
https://mendelianscreening.streamlit.app/

Enter patient and gene, and get back all overlapping simple variants, structural variants, and genotypes. Check the compute additional annotations button to calculate annotations for variants that were previously unannotated, concatenate SNVs that are in cis into MNVs, and annotate those MNVs.
Enter patient and gene(s), and get back all variants, annotated with diagnostic implications, predicted molecular consequences, and population
allele frequencies. Patient's problem list is flagged with conditions potentially having an underlying genetic basis.

Uses:
* get-feature-coordinates
* FHIR search (to retrieve conditions, medications, allergies)
* find-subject-variants
* find-subject-structural-intersecting-variants
* find-subject-haplotypes
* find-subject-molecular-consequences
* find-subject-dx-implications

## Get Polygenic Score
https://polygenicscore.streamlit.app/

video: https://vimeo.com/930060292
https://polygenicscore.streamlit.app/ (and video: https://vimeo.com/930060292)

This proof-of-concept app demonstrates the computation of a polygenic score, using FHIR Genomics Operations to access a person's entire genome.
Select patient and polygenic model in the sidebar, optionally adjust standard deviation threshold, and click 'Run'.
Expand Down
Loading

0 comments on commit ba82892

Please sign in to comment.