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monarch-initiative
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genophenocorr
Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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better error messages
#83
pnrobinson
closed
6 months ago
3
https://github.com/monarch-initiative/genophenocorr/issues/81
#82
pnrobinson
closed
8 months ago
0
as_string() does not exist
#81
pnrobinson
closed
8 months ago
2
files for PPP2R1A
#80
pnrobinson
closed
6 months ago
2
Variant class should have get_preferred_transcript()
#79
pnrobinson
closed
5 months ago
4
Moved VariantEffects so it's using the Enum
#78
lnrekerle
closed
8 months ago
0
HGVSVariantCoordinatesFinder
#77
frehburg
closed
8 months ago
16
Support mapping HGVS annotation to variant genomic coordinates
#76
ielis
closed
8 months ago
1
Support mapping an HGVS annotation to `VariantCoordinates`
#75
ielis
closed
8 months ago
1
Set `is_preferred` annotation
#74
ielis
closed
9 months ago
0
Implement setting `is_preferred` field for `TranscriptAnnotation`
#73
ielis
closed
9 months ago
0
Show progress when loading phenopackets
#72
pnrobinson
closed
7 months ago
1
Implement predicate to compare two variants
#71
ielis
closed
7 months ago
0
Finish extending transcript exon model
#70
ielis
closed
9 months ago
1
Enable comparison between diseases
#69
pnrobinson
closed
2 weeks ago
2
Fixed bugs that came up with a subjects in RPGRIP
#68
lnrekerle
closed
9 months ago
0
Prepare logic for fetching transcript regions for visualization
#67
ielis
closed
9 months ago
0
Put a little more lipstick on the repo
#66
ielis
closed
9 months ago
0
Release v0.1.0
#65
lnrekerle
closed
9 months ago
0
Add `is_preferred` attribute to transcript annotation
#64
ielis
closed
9 months ago
1
Implement VariantValidator TranscriptCoordinateService
#63
ielis
closed
6 months ago
7
Implement gene, transcript, exon data model
#62
ielis
closed
9 months ago
0
Prepare release workflow
#61
ielis
closed
9 months ago
0
Setup release workflow
#60
ielis
closed
9 months ago
0
method names should be unambiguous
#59
pnrobinson
opened
9 months ago
1
Available transcript viewer
#58
pnrobinson
opened
9 months ago
0
Added MultiTest Correction and updated SUOX nb
#57
lnrekerle
closed
9 months ago
0
Expected at least one HPO term per patient, but received none for patient Reuter2020
#56
pnrobinson
closed
5 months ago
1
display tables for HPO terms and variants
#55
pnrobinson
closed
9 months ago
1
Divide by 0 error with HPO HP:0000276, not included in this analysis.
#54
pnrobinson
closed
1 week ago
1
Updated SUOX to new api and removed old files
#53
lnrekerle
closed
9 months ago
0
user-friendly error messages
#52
pnrobinson
closed
6 months ago
0
Updated KBG to work with current structure
#51
lnrekerle
closed
9 months ago
0
Mention automatic creation folders if cache directory does not exist
#50
ielis
closed
9 months ago
0
Consider allowing to coordinate sort variants when summarizing cohort
#49
ielis
opened
9 months ago
0
Consider adding a step for inferring excluded features for a cohort
#48
ielis
opened
9 months ago
2
Document input data requirements
#47
ielis
closed
9 months ago
0
Update the notebooks
#46
ielis
closed
6 months ago
2
Include clinically relevant transcript in the model
#45
ielis
closed
9 months ago
2
Add figure for showing distribution of phenotypic feature counts
#44
ielis
opened
9 months ago
0
Show counts of monoallelic and biallelic variants
#43
ielis
closed
2 weeks ago
5
Add convenience function for configuring `PhenopacketPatientCreator`
#42
ielis
closed
9 months ago
0
Set dependency versions in project setup
#41
ielis
closed
9 months ago
0
Use `VariantEffect` in `TranscriptAnnotation`
#40
ielis
closed
8 months ago
0
TIME-SENSTIVE: make this repo public or switch off github actions
#39
cmungall
closed
9 months ago
3
Rearrange packages
#38
ielis
closed
9 months ago
0
Simplify testing
#37
lnrekerle
closed
9 months ago
0
Discuss package structure and improve API reference
#36
ielis
closed
9 months ago
0
Updated the tutorial examples
#35
lnrekerle
closed
10 months ago
1
updating MAPK8IP3 notebook
#34
pnrobinson
closed
9 months ago
0
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