issues
search
clingen-data-model
/
clingen-hail-reports
Performs filtering against gnomAD and ClinVar datasets. Uses Hail to report records with a population FAF above certain thresholds by gene.
1
stars
0
forks
source link
issues
Newest
Newest
Most commented
Recently updated
Oldest
Least commented
Least recently updated
Create gnomad-gks demo notebook for GA4GH connect workshop
#12
theferrit32
closed
9 months ago
2
Add GA4GH GKS normalization notebook
#10
theferrit32
closed
1 year ago
2
Add gnomad frequency & clinvar status to Invitae URM list
#9
sharriso
closed
2 years ago
5
Debug missing HGVS values in RUNX1, CDH1, and other genes
#8
theferrit32
closed
2 years ago
1
Nondeterministic popmax populations in gnomad freq reports
#7
theferrit32
closed
2 years ago
7
Enable overlapping and non-same directional thresholds in FAF notebook
#6
theferrit32
opened
3 years ago
4
Rerun faf report with updated input data
#5
theferrit32
closed
3 years ago
0
Fix bug in gnomad-clinvar-af-revstatus.ipynb for missing gnomad values
#4
theferrit32
closed
3 years ago
1
Create clinvar/gnomad annotation workflow for variation inputs
#3
theferrit32
closed
3 years ago
0
rename from gnomad-frequency-report to clingen-hail-reports
#2
theferrit32
opened
4 years ago
5
Add column for counts of clinical significance entries for rows with conflicting interpretations
#1
theferrit32
closed
4 years ago
0