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130 Open 388 Closed
130 Open 388 Closed
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Issues list

Add missing ALPHA_MISSENSE to preset.yml files
#588 opened Jan 17, 2025 by julesjacobsen
Add CADD-SV
#587 opened Jan 10, 2025 by julesjacobsen
1
Application run failed
#586 opened Jan 9, 2025 by abrusell
2
Information about Running Exomiser Without HPO-IDs and Adding CADD-SV Scores
#585 opened Jan 9, 2025 by poddarharsh15
2
CADD 1.7 and ReMM 0.4
#577 opened Nov 5, 2024 by paolomaccallini-hub
1
No known disease
#576 opened Oct 16, 2024 by pnrobinson
2
Phasing using Gnomad data
#575 opened Oct 7, 2024 by damiansm
Exomiser Cli Version 14.00 Distroless Internal Singularity Path
#572 opened Sep 25, 2024 by yr542
1
Output CADD Phred Score instead of CADD raw score
#569 opened Sep 11, 2024 by rfarhad
Update CLI to use JCommander
#568 opened Sep 9, 2024 by julesjacobsen 15.0.0
@julesjacobsen
CADD score normalization
#566 opened Aug 27, 2024 by icooperstein
2
Mode of inheretance pedigree
#564 opened Jul 14, 2024 by bioinfogit
1
Add support for STR prioritisation from ExpansionHunter calls
#563 opened Jul 4, 2024 by julesjacobsen 15.0.0
@julesjacobsen
Exomiser v14.0.0 is not recognizing unstructured key meta-information as a valid header line.
#559 opened May 9, 2024 by ShrutiMarwaha
3
Update JSON output to JSONLines
#558 opened Apr 24, 2024 by julesjacobsen 15.0.0
2
False positive hits to Orphanet copy-number diseases.
#557 opened Apr 12, 2024 by julesjacobsen
3
Dependence of variant rankings on other variants?
#556 opened Apr 12, 2024 by cbohrson
2
Annotate all variants in the VCF file with exomiser score and ACMG
#553 opened Mar 13, 2024 by Bioinf-usr
5
Update HTSJDK to allow reading of VCF v4.4 when available
#550 opened Mar 12, 2024 by julesjacobsen
Whitespace in INFO field
#548 opened Mar 11, 2024 by AlistairNWard
4
I saw the exomiser-rest-priorities.jar program in releases, but i did not find the function of the program, could someone give some prompts about it? THX!!!
#547 opened Mar 10, 2024 by lpsyy
2
No Passed Filter variant
#536 opened Jan 11, 2024 by abrusell
1
how to built personal input files
#533 opened Nov 24, 2023 by lpsyy
1
Log out notification for users running old data versions
#530 opened Nov 9, 2023 by julesjacobsen 14.0.0
@julesjacobsen
Sample parser is throwing error that does not respect Phenopacket schema
#529 opened Nov 6, 2023 by lacek
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