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132 Open 360 Closed
132 Open 360 Closed
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Issues list

exomiser_variant_tsv_output_CLINVAR_PRIMARY_INTERPRETATION_column, frequency scores and disease associations
#560 opened May 11, 2024 by reversetosanam
8
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
2
False positive hits to Orphanet copy-number diseases.
#557 opened Apr 12, 2024 by julesjacobsen
2
Dependence of variant rankings on other variants?
#556 opened Apr 12, 2024 by cbohrson
2
Broken URLs in tutorials
#554 opened Mar 24, 2024 by matentzn
Annotate all variants in the VCF file with exomiser score and ACMG
#553 opened Mar 13, 2024 by Bioinf-usr
5
Usage of alphamissense
#552 opened Mar 13, 2024 by Bioinf-usr
3
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
SpliceAI in exomiser-14
#546 opened Mar 8, 2024 by massiddamt
7
No Passed Filter variant
#536 opened Jan 11, 2024 by abrusell
1
Variant frequency and/or pathogenicity annotations missing bug core
#534 opened Nov 30, 2023 by julesjacobsen
@julesjacobsen
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
Investigate DeepLOF scores in comparison with gnomAD LOEUF for PVS1 assignment
#524 opened Oct 17, 2023 by julesjacobsen
Fail: Individual cannot have a null or empty identifier
#523 opened Oct 10, 2023 by antonylebechec
Phenotype-only, and VCF without sample analysis
#522 opened Sep 27, 2023 by antonylebechec
Genomiser is abnormally slow and giving different results in full mode
#519 opened Sep 20, 2023 by lacek
2
p-value differs in different analysis mode (FULL v.s. PASS_ONLY)
#518 opened Sep 18, 2023 by lacek
Sort input phenotype terms
#517 opened Sep 11, 2023 by julesjacobsen
Replace ClinVar whitelist with optional ClinVar-based scoring
#515 opened Sep 6, 2023 by julesjacobsen
2
Create Nextflow Exomiser
#512 opened Sep 1, 2023 by iimpulse
@iimpulse
5
ProTip! Updated in the last three days: updated:>2024-05-19.