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TheJacksonLaboratory
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LIRICAL
LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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-x flag is silently ignored in YAML mode
#461
justaddcoffee
closed
4 years ago
2
Correct handling of genotype info when outputting results in YAML mode
#460
justaddcoffee
closed
4 years ago
3
Genotypes not labeled or explained in output when using YAML command
#459
justaddcoffee
closed
4 years ago
3
Slightly better error message when exomiser data dir not set in YAML mode
#458
justaddcoffee
closed
4 years ago
1
Unhelpful error message when exomiser data directory isn't set
#457
justaddcoffee
closed
4 years ago
2
Posttest svg
#456
pnrobinson
closed
4 years ago
0
Problem parsing phenopacket
#455
justaddcoffee
closed
4 years ago
0
Problem parsing phenopacket
#454
justaddcoffee
closed
4 years ago
5
Consider adding SVG graphic to show posterior probability of top differentials
#453
pnrobinson
closed
4 years ago
2
Several edits and updates while reading through docs
#452
justaddcoffee
closed
4 years ago
0
correction documentation
#451
pnrobinson
closed
4 years ago
0
updating log file name
#450
pnrobinson
closed
4 years ago
0
Develop
#449
pnrobinson
closed
4 years ago
0
update documentation about running from VCF/Phenopacket
#448
pnrobinson
closed
4 years ago
1
strict and keep
#447
pnrobinson
closed
4 years ago
1
Crash on Mac
#446
pnrobinson
closed
4 years ago
9
Make the --strict mode the default for VCF-runs
#445
pnrobinson
closed
4 years ago
1
Changing LR2PG to LIRICAL docs (but leaving jar path alone)
#444
cmungall
closed
4 years ago
0
Check curation accuracy
#443
pnrobinson
closed
4 years ago
1
Develop
#442
pnrobinson
closed
4 years ago
0
Develop
#441
pnrobinson
closed
4 years ago
0
Improve output for phenotype only phenopacket analysis
#440
pnrobinson
closed
4 years ago
1
Update to Exomiser 12.1.0
#439
pnrobinson
closed
4 years ago
1
Develop
#438
pnrobinson
closed
4 years ago
0
Nonrootcommonanc
#437
pnrobinson
closed
4 years ago
0
Q~D
#436
pnrobinson
closed
4 years ago
1
Develop
#435
pnrobinson
closed
4 years ago
0
adapting case (iii) of phenotype LR calculation
#434
pnrobinson
closed
4 years ago
0
noCommonOrganProbability
#433
pnrobinson
closed
4 years ago
1
Develop
#432
pnrobinson
closed
4 years ago
0
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
#431
pnrobinson
closed
4 years ago
1
Orphanet functionality
#430
pnrobinson
closed
5 years ago
0
Add option to use LIRICAL with ORPHANET annotations
#429
pnrobinson
closed
4 years ago
1
Develop
#428
pnrobinson
closed
5 years ago
0
Nonroot common ancestor Q~D
#427
pnrobinson
closed
5 years ago
1
Develop
#426
pnrobinson
closed
5 years ago
0
TRICHORHINOPHALANGEAL SYNDROME, TYPE I [OMIM:190350]
#425
pnrobinson
closed
5 years ago
1
EXCLUDED_IN_DISEASE_BUT_PRESENT_IN_QUERY_PROBABILITY
#424
pnrobinson
closed
5 years ago
1
Gene score still not working
#423
pnrobinson
closed
5 years ago
1
Not implementation
#422
pnrobinson
closed
5 years ago
1
100.00000%
#421
pnrobinson
closed
5 years ago
1
Treatment of NOT annotations in disease
#420
pnrobinson
closed
5 years ago
1
getGenotypeScoreExplanation
#419
pnrobinson
closed
5 years ago
1
Genotype score LR: No variants found in disease-associated gene:
#418
pnrobinson
closed
5 years ago
2
Zhang-2016-RPS19-patient.json
#417
pnrobinson
closed
5 years ago
1
Schaefer-2014-POLR1D
#416
pnrobinson
closed
5 years ago
1
Disease2GeneDataIngestor
#415
pnrobinson
closed
5 years ago
1
do we need to add "strict" to CaseEvaluator?
#414
pnrobinson
closed
5 years ago
1
UMOD
#413
pnrobinson
closed
5 years ago
1
SPTA1
#412
pnrobinson
closed
5 years ago
2
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