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Issues list

Removal of Uberpheno Prioritiser enhancement
#150 by julesjacobsen was closed Nov 9, 2016 8.0.0
@julesjacobsen
5
chanching source path to org.monarchinitiative.exomiser question
#164 by visze was closed Feb 8, 2017
2
Enable analyis steps in AnalysisFactory urgent
#163 by damiansm was closed Dec 2, 2016
1
Ability to use other transcript sources for Annotation urgent
#162 by damiansm was closed Dec 19, 2016 8.0.0
@julesjacobsen
20
Database split task
#161 by damiansm was closed Jan 2, 2018 9.0.0
2
Exomiser phenotype db and code in sync with Monarch task
#160 by damiansm was closed Jul 11, 2017 9.0.0
Website/ftp site move to Monarch
#158 by damiansm was closed Feb 6, 2017
3 tasks done
8.0.0
3
User-specified data e.g. local frequencies urgent
#157 by damiansm was closed Apr 25, 2017 8.0.0
4
GeneIdentifier class
#156 by damiansm was closed Dec 14, 2016 8.0.0
3
Make Model generic
#155 by damiansm was closed Mar 21, 2017 8.0.0
1
Resolve license for Exomiser task
#154 by damiansm was closed Oct 30, 2018 8.0.0
1
Polyphen Score Model Choice
#153 by stolpeo was closed Feb 8, 2017
1
Add a variant whitelist for known pathogenic variants or use ClinVar data core task
#152 by julesjacobsen was closed Feb 15, 2019 9.0.0
24
Investigate VariantEvaluation memory requirements. core enhancement
#136 by julesjacobsen was closed Dec 2, 2016 8.0.0
1
Remove ScoringMode - only one mode is ever used.
#149 by julesjacobsen was closed Nov 8, 2016 8.0.0
7
Update Jannovar to 0.17.0
#148 by julesjacobsen was closed Nov 10, 2016 8.0.0
3
Proband sample ID should be specified in input bug core multi-allele-issue question
#147 by julesjacobsen was closed Mar 31, 2017 8.0.0
13
Use @JsonComponent for analysis de/serialisation enhancement
#146 by julesjacobsen was closed Mar 13, 2018
1
Sanger Demo: Unknown error (502) when using from Crete question web
#145 by drseb was closed Nov 2, 2016
1
de.charite.compbio.exomiser.core.prioritisers.PhenixPriority$PhenixException: Please supply some HPO terms. PhenIX is unable to prioritise genes without these. bug web
#144 by visze was closed Nov 8, 2016
8
Postprocess UTR mutations for visualization enhancement
#143 by pnrobinson was closed Jul 20, 2017 9.0.0
2
REGULATORY_REGION_VARIANT enhancement
#142 by pnrobinson was closed Jul 20, 2017 9.0.0
4
Brain noises
#141 by julesjacobsen was closed Jul 10, 2017
4
Model, Disease, DiseaseModel, GeneModel, TheoreticalModel. Not quite right...
#138 by julesjacobsen was closed Oct 13, 2016 8.0.0
1
Update to Spring Boot 1.4
#137 by julesjacobsen was closed Nov 2, 2016
1
ProTip! What’s not been updated in a month: updated:<2024-08-02.