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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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ACMG secondary findings
#506
naamaeb
closed
11 months ago
1
Add missense z scores
#505
julesjacobsen
closed
3 months ago
1
Try assembly check and fail at startup
#504
julesjacobsen
opened
11 months ago
0
Create long-term archival format for variant data
#503
julesjacobsen
opened
11 months ago
0
Adjust PM2 weighting to Supporting in line with SVI v1.0
#502
julesjacobsen
closed
8 months ago
0
Enable more frequent ClinVar data updates in Exomiser database
#501
julesjacobsen
closed
3 months ago
5
Update H2 dependency to 2.1.x?
#500
julesjacobsen
closed
11 months ago
2
Users want to use Exomiser as an annotation tool...
#498
julesjacobsen
opened
1 year ago
0
Error with Test run
#497
kiranpatil222
closed
11 months ago
4
Variants not being passed into Exomiser
#496
brendan-kearney
opened
1 year ago
2
Update installation.rst
#495
souzadevinicius
opened
1 year ago
0
custom VCF no gene/variant prioritized
#494
Nelhachem
closed
1 year ago
0
Genomad frequency results shown by the exomizer different from gnomad v3.1.2 (hg38)
#493
naiarabediaga
closed
1 year ago
1
Add analysis strategies to docs
#492
julesjacobsen
opened
1 year ago
1
Replace phenopacket ingest code with phenopacket-tools-io
#491
julesjacobsen
opened
1 year ago
0
An error: comparison of unrelated phenotypes
#490
jagcsun
opened
1 year ago
4
new docker distroless image
#489
iQuxLE
opened
1 year ago
0
TSV_VARIANT outputs only prioritized variants with exomiser gene score > 0
#488
saramonzon
opened
1 year ago
1
Exomiser VCF output includes whitespace in INFO field which are forbidden in VCF<4.3
#486
ielis
closed
9 months ago
2
missing distribution
#485
abrusell
closed
1 year ago
1
ERROR 88104 --- [ main] o.m.e.c.g.j.JannovarDataProtoSerialiser : Unable to deserialise data
#484
enricoperez
closed
1 year ago
2
Update phenotype schema sem-sim tables
#483
julesjacobsen
opened
1 year ago
2
Empty inheritanceModes leads to empty output tables
#481
genetikzentrum
closed
1 year ago
1
Excessive CPU usage and application hang when calculating gene scores
#479
julesjacobsen
closed
1 year ago
1
gene.tsv output file empty when run using `--prefix phenotype-only`
#478
julesjacobsen
closed
1 year ago
0
Build exomiser-cli docker image with shell fixes #470
#477
iQuxLE
closed
1 year ago
0
Update examples with new output options
#476
julesjacobsen
closed
1 year ago
0
Specify output_format on CLI fixes #471
#475
iQuxLE
closed
1 year ago
0
Update Spring Boot from 2.x to 3.x
#474
julesjacobsen
closed
12 months ago
2
Add more complete coverage of ACMG categories
#473
julesjacobsen
opened
1 year ago
1
Adding local variant frequency database
#472
patrickrshea
closed
1 year ago
2
Specify output-format on CLI
#471
julesjacobsen
closed
1 year ago
0
Build exomiser-cli docker image using a container with a shell
#470
julesjacobsen
closed
1 year ago
0
Enable specifiying output directory on the CLI
#469
julesjacobsen
closed
1 year ago
2
gene pheno scores
#468
naamaeb
closed
1 year ago
3
Exomiser data versions
#467
awab-ahmed
closed
1 year ago
1
changes for issue #457
#466
iQuxLE
closed
1 year ago
0
OMIM link problem (HTML Phenotypic similarity field)
#465
josealvesferrao
closed
1 year ago
1
Can Exomiser perform segregation analysis?
#464
nvadgama87
opened
1 year ago
6
Inverstigate unifying the InheritanceMode / ModeOfInheritance / SubModeOfInheritance enumerations
#463
julesjacobsen
opened
1 year ago
1
Update `application.properties` `variant-white-list-path` to `use-clinvar-whitelist`
#462
julesjacobsen
closed
11 months 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
12 months ago
0
Update spring.factories for Boot 2.7 - 3.0
#456
julesjacobsen
closed
12 months 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
1 year ago
0
Throw an error when input VCF is missing GT field
#453
julesjacobsen
opened
1 year ago
1
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