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bihealth
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auto-acmg
Automatic classification of sequence variants and CNVs according to ACMG criteria.
GNU General Public License v3.0
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Finish prediction of `BA1`, `BS1`, `BS2`, `PM2` criteria
#131
gromdimon
closed
4 months ago
1
Reimplement AutoPS1PM5
#130
gromdimon
closed
4 months ago
1
Finish `AutoPP2BP1`
#129
gromdimon
closed
4 months ago
1
Enhance general output of acmg prediction
#128
gromdimon
closed
4 months ago
1
Enhance general output of ACMG prediction
#127
gromdimon
closed
4 months ago
1
Finish autopp3bp4
#126
gromdimon
closed
5 months ago
1
Implement SpliceAI scores check and proximity to the splice site check for the `AutoBP7`
#125
gromdimon
closed
5 months ago
1
Implement exon skipping or cryptic ss disruption method
#124
gromdimon
closed
5 months ago
0
Reimplement `AutoPS1PM5`
#123
gromdimon
closed
4 months ago
0
Finish `AutoBA1BS1BS2PS4PM2`
#122
gromdimon
closed
4 months ago
1
Finish `AutoPM1`
#121
gromdimon
closed
4 months ago
0
Finish `AutoPM4BP3`
#120
gromdimon
closed
4 months ago
0
Finish `AutoPP2BP1`
#119
gromdimon
closed
4 months ago
0
Finish `AutoPP3BP4`
#118
gromdimon
closed
5 months ago
1
Finish `AutoBP7`
#117
gromdimon
closed
5 months ago
0
New result class
#116
gromdimon
closed
5 months ago
1
Init pp3 and bp4 implementation
#115
gromdimon
closed
5 months ago
1
Added depricatioin note for PP5 and BP6 criteria
#114
gromdimon
closed
5 months ago
1
Implement bp7 criteria
#113
gromdimon
closed
5 months ago
1
Implement PP2 and BP1 criteria
#112
gromdimon
closed
5 months ago
0
Implement pm1 criteria
#111
gromdimon
closed
5 months ago
1
Unify auto-acmg methods
#110
gromdimon
closed
5 months ago
1
Unify AutoACMG methods
#109
gromdimon
closed
5 months ago
0
Implement `PS4` criteria
#108
gromdimon
closed
3 months ago
1
Add loguru to requirements.txt in docs
#107
gromdimon
closed
5 months ago
0
Implement `BA1`, `BS1`, `BS2`, `PS4`, `PM2` criteria
#106
gromdimon
closed
5 months ago
1
Refactoring
#105
gromdimon
closed
5 months ago
0
Refactor the existing methods to make them more robust
#104
gromdimon
closed
5 months ago
0
Add Regex for frameshift and premature termination codon variants in `_get_variant_position` method
#103
gromdimon
closed
5 months ago
1
Implement `_upstream_pathogenic_variant` method
#102
gromdimon
closed
5 months ago
1
Fix NMD prediction
#101
gromdimon
closed
5 months ago
1
Increase test coverage
#100
gromdimon
closed
5 months ago
1
PM4 and BP3 prediction
#99
gromdimon
closed
5 months ago
1
Increase e2e test coverage
#98
gromdimon
closed
5 months ago
0
End2end tests
#97
gromdimon
closed
5 months ago
1
New variants and new links for various sources
#96
gromdimon
closed
5 months ago
1
Implementation of PS1 criteria
#95
gromdimon
closed
6 months ago
1
Setup proper error handling throughout the application
#94
gromdimon
closed
6 months ago
0
Integrate loguru for advanced logging
#93
gromdimon
closed
6 months ago
1
Setup proper Error handling
#92
gromdimon
closed
6 months ago
0
Add more tests for functionality with annonars
#91
gromdimon
closed
6 months ago
1
Add integration testing
#90
gromdimon
closed
5 months ago
1
55 update methods of seqvarpvs1helper to be more unified
#89
gromdimon
closed
6 months ago
0
Implement new annonars model
#88
gromdimon
closed
6 months ago
1
Add bibliography note
#87
gromdimon
closed
6 months ago
0
Fix docs rendering
#86
gromdimon
closed
6 months ago
0
Add documentation of acmg criteria
#85
gromdimon
closed
6 months ago
1
Add ACMG criteria docs
#84
gromdimon
closed
6 months ago
0
Restructure module in order to support other acmg rules
#83
gromdimon
closed
6 months ago
1
Remove duplicated .env in gitignore
#82
gromdimon
closed
6 months ago
1
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