exomiser Exomiser issues

exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants

https://exomiser.readthedocs.io

GNU Affero General Public License v3.0

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issues

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I need help with the following Exomiser error.

#561 lucian-mihai closed 1 month ago
1
exomiser_variant_tsv_output_CLINVAR_PRIMARY_INTERPRETATION_column, frequency scores and disease associations

#560 reversetosanam closed 2 days ago
9
Exomiser v14.0.0 is not recognizing unstructured key meta-information as a valid header line.

#559 ShrutiMarwaha opened 1 month ago
3
Update JSON output to JSONLines

#558 julesjacobsen opened 2 months ago
2
False positive hits to Orphanet copy-number diseases.

#557 julesjacobsen opened 2 months ago
3
Dependence of variant rankings on other variants?

#556 cbohrson opened 2 months ago
2
`java.nio.file.AccessDeniedException: /app/classes/results` / empty results

#555 matentzn closed 3 months ago
4
Broken URLs in tutorials

#554 matentzn opened 3 months ago
0
Annotate all variants in the VCF file with exomiser score and ACMG

#553 Bioinf-usr opened 3 months ago
5
Usage of alphamissense

#552 Bioinf-usr closed 2 days ago
4
Update HTSJDK to allow reading of VCF v4.4 when available

#550 julesjacobsen opened 3 months ago
0
Fix DOI URLs in publications.rst

#549 cmungall closed 3 months ago
1
Whitespace in INFO field

#548 AlistairNWard opened 3 months ago
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 lpsyy opened 3 months ago
2
SpliceAI in exomiser-14

#546 massiddamt closed 2 days ago
10
Links need to updated

#545 Bioinf-usr closed 3 months ago
2
Exomiser logs to /tmp/spring.log, causing clashes in shared user environments

#541 oneillkza closed 4 months ago
4
Assistance Needed: Exomiser Error - Fully-Closed Coordinates Out of Contig Bounds

#540 1995Q closed 4 months ago
1
RPPR stats from grainyhead?

#539 matentzn closed 4 months ago
1
Data for REMM is not configured

#538 HongyuanChu closed 3 months ago
2
Unable to deserialise data

#537 lpsyy closed 3 months ago
3
No Passed Filter variant

#536 abrusell opened 5 months ago
1
Some conflicting ClinVar interpretations could be displayed with better information

#535 pnrobinson closed 5 months ago
2
Variant frequency and/or pathogenicity annotations missing

#534 julesjacobsen closed 1 day ago
1
how to built personal input files

#533 lpsyy opened 7 months ago
1
how to built personal input files

#532 lpsyy closed 6 months ago
0
Variants Removed but Not Filtered

#531 SophieS9 closed 3 months ago
9
Log out notification for users running old data versions

#530 julesjacobsen opened 7 months ago
0
Sample parser is throwing error that does not respect Phenopacket schema

#529 lacek opened 8 months ago
0
Update allele frequency data to use gnomAD v4.0

#528 julesjacobsen closed 2 months ago
2
Fully-closed coordinates 1:249064688-249064690 out of contig bounds [1,248956422]

#525 GACGAMA closed 8 months ago
1
Investigate DeepLOF scores in comparison with gnomAD LOEUF for PVS1 assignment

#524 julesjacobsen opened 8 months ago
0
Fail: Individual cannot have a null or empty identifier

#523 antonylebechec opened 8 months ago
0
Phenotype-only, and VCF without sample analysis

#522 antonylebechec opened 9 months ago
0
Update Jannovar to 0.41 to fix incorrect MT annotations

#521 julesjacobsen closed 9 months ago
1
integrate alphamissense

#520 cmungall closed 5 months ago
5
Genomiser is abnormally slow and giving different results in full mode

#519 lacek opened 9 months ago
2
p-value differs in different analysis mode (FULL v.s. PASS_ONLY)

#518 lacek opened 9 months ago
0
Sort input phenotype terms

#517 julesjacobsen opened 9 months ago
0
Error with exomiser 13.2.1 Caused by: org.h2.jdbc.JdbcSQLNonTransientConnectionException:

#516 fionaelisa closed 9 months ago
7
Replace ClinVar whitelist with optional ClinVar-based scoring

#515 julesjacobsen opened 10 months ago
2
Add new points based ACMG classification

#514 julesjacobsen closed 9 months ago
2
Remove founder & other small populations from default frequency sources

#513 julesjacobsen closed 9 months ago
2
Create Nextflow Exomiser

#512 iimpulse opened 10 months ago
5
Incorrect documentation of probandId in sample file

#511 lacek closed 9 months ago
1
A confusing result

#510 Eduardo-Auer opened 11 months ago
3
Hot to set age in yml?

#509 bmuchmore closed 5 months ago
2
AR prioritization false calls

#508 Wynandi opened 11 months ago
0
ACMG classifications

#507 Wynandi closed 1 day ago
2
ACMG secondary findings

#506 naamaeb closed 10 months ago
1