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exomiser
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Exomiser
A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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Update `application.properties` `variant-white-list-path` to `use-clinvar-whitelist`
#462
julesjacobsen
closed
1 year ago
2
Replace OmimPrioritiser with DiseaseDao and function in GeneScorer
#461
julesjacobsen
opened
1 year ago
0
Missing maven artefacts for sonumina - PhenIX dependencies.
#460
julesjacobsen
closed
1 year ago
5
Is there a way to disable ClinVar for testing ?
#459
Tintest
closed
1 year ago
2
Add Gene and Variant ranks to AnalysisResults and JSON output
#458
julesjacobsen
opened
1 year ago
1
Add GeneBlacklistFilter to remove common false-positives
#457
julesjacobsen
closed
1 year ago
0
Update spring.factories for Boot 2.7 - 3.0
#456
julesjacobsen
closed
1 year ago
0
Exomiser freezes after a few seconds - help!
#455
nvadgama87
closed
1 year ago
2
Exomiser freezes after a few seconds
#454
nvadgama87
closed
2 years ago
0
Throw an error when input VCF is missing GT field
#453
julesjacobsen
opened
2 years ago
1
Investigate adding ClinGen disease gene validity data
#451
julesjacobsen
opened
2 years ago
1
Permissive Parsing and Phenopacket Versions
#450
iimpulse
opened
2 years ago
2
2022 models missing
#449
Tintest
closed
2 years ago
3
Error during analysis Exomiser 13.1.0
#448
JirefV
closed
2 years ago
3
Exomiser returning empty output files
#446
NyashaTM
closed
1 year ago
4
Documentation on SV prioritization
#445
josephhalstead
closed
2 years ago
4
Errors in phenotype matching
#444
pnrobinson
opened
2 years ago
0
Improve Exomiser HTML
#443
pnrobinson
opened
2 years ago
3
Investigate encoding gnomAD, frequency and pathogenicity data separately in AlleleProperties proto
#442
julesjacobsen
closed
8 months ago
3
Specifying `--vcf` without `--assembly` should throw an error
#441
julesjacobsen
closed
2 years ago
1
Error starting ApplicationContext. To display the conditions report re-run your application with 'debug' enabled.
#440
FAFUshiyan
closed
1 year ago
4
Error running exsomiser: Error starting Application
#439
glustein
closed
1 year ago
1
IGV plugin for results viewing
#438
julesjacobsen
opened
2 years ago
0
Add gnomAD to output files to assist manual assessment.
#437
julesjacobsen
closed
2 years ago
1
StringDB links require version prefix
#436
julesjacobsen
closed
2 years ago
1
Bus error
#435
alexs1220
closed
2 years ago
1
The frequency results shown by the exomizer are different from the database.
#434
luceamso
closed
2 years ago
1
Error in running exomiser web in v13.0.1
#433
furbelows
closed
1 year ago
2
Hard-coded gene link results
#432
iimpulse
closed
1 year ago
2
multi-proband in multi-VCFs
#431
luceamso
opened
2 years ago
1
Disabling hg19 for rest prioritiser
#430
holtgrewe
closed
2 years ago
4
Assembly hg19 not supported in this instance. Supported assemblies are: [hg38]
#429
LiviaMoura
closed
2 years ago
2
Error running exsomiser: Error starting ApplicationContext
#428
rhassnan
closed
2 years ago
2
Issues with batch mode
#427
DiyaPrabhuram
closed
2 years ago
3
Supporting data unavailable
#426
LiviaMoura
closed
2 years ago
2
Error using exomiser_v.13.0.1
#425
heweihuang
closed
2 years ago
0
Add a gene symbol anchor to the result html page
#422
SimonLi5601
opened
2 years ago
1
Update CSV output to single file including MOI
#421
julesjacobsen
closed
2 years ago
1
Enable Short Tandem Repeat prioritisation using ExpansionHunter
#420
julesjacobsen
opened
2 years ago
2
Regarding the annotation scores
#419
azzatha
closed
2 years ago
1
ERROR：unparsable vcf record with allele *
#418
Tttgb
closed
2 years ago
1
Enable output-prefix on cli
#417
julesjacobsen
closed
1 year ago
0
Issue encountered while running exomiser through Docker
#416
wowwish
opened
2 years ago
9
New security issue?
#415
builtinbc
closed
2 years ago
1
exomiser-rest-prioritiser 13.0?
#414
holtgrewe
closed
3 weeks ago
3
One sample from multi-sample VCF
#413
C-Gouveia
opened
2 years ago
1
Error creating bean with name 'dataSource' when running test example on exomiser-cli-13.0.0
#412
evgonzal
closed
2 years ago
4
grch37 ensembl site
#411
Eduardo-Auer
closed
1 year ago
2
Application failed to start due to org.springframework.beans.factory.NoUniqueBeanDefinitionException
#410
geneguard-radu
closed
2 years ago
8
ReMM.v0.3.1.post1.hg38 not working?
#409
Eduardo-Auer
closed
2 years ago
2
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