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base repository: exomiser/Exomiser
base: 13.2.1
head repository: exomiser/Exomiser
compare: 13.3.0
- 20 commits
- 72 files changed
- 1 contributor
Commits on Jul 19, 2023
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Commits on Sep 7, 2023
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Change for #351, #373, #379 - update exomiser-phenotype-data to take …
…annotations from phenotype.hpoa Update application.properties and ResourceConfigurationProperties to remove unused fields. Update DiseaseInheritanceCacheReader and DiseasePhenotypeReader to parse phenotype.hpoa file Update DiseaseResourceConfig to use hpoa resource
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Change for issue #502 - downgrade PM2 - PM2_Supporting for variants l…
…acking frequency information. Update Acgs2020Classifier and Acmg2015Classifier to allow for PVS1 and PM2_Supporting are sufficient to trigger LIKELY_PATHOGENIC Change for issue #514 update AcmgEvidence to fit a Bayesian points-based system Add new Acmg2020PointsBasedClassifier to classify AcmgEvidence based on points
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Commits on Sep 15, 2023
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Add new FrequencyData.getMaxFreqForPopulation to allow for specific p…
…opulation frequency filtering Add new FrequencySource.NON_FOUNDER_POPS to exclude FIN, ASJ, OTH ExAC and gnomAD populations. Update Acmg2015EvidenceAssigner to implement updated guidelines from ClinGen SVI for BA1 and PM2 see issue #513 for details
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Change for #513 - remove ASJ, FIN, OTH ExAC and gnomAD populations fr…
…om presets and examples.
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Commits on Sep 19, 2023
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Fix fo #486 - replace whitespace with underscores in VCF `EXOMISER_AC…
…MG_DISEASE_NAME` INFO sub-field
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Commits on Sep 21, 2023
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Commits on Sep 25, 2023
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Update Jannovar version 0.30 to 0.41
Update JannovarProtoConverter to handle new Alignment requirement Add tests to check handling of reading pre and post update Jannovar data Update JannovarVariantAnnotatorTest to check correct annotation of mitochondrial variants requiring use of the mitochondrial-specific encodings in the codon table
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Commits on Oct 25, 2023
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Alter Acmg2015EvidenceAssigner.assignPM2 to ignore LOCAL population f…
…requency, if present,
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Commits on Oct 26, 2023
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