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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java.lang.IllegalArgumentException: Unable to parse sample from file

#579 Peter-J-Freeman opened 11 hours ago
1
loss some allele variants in final result whien analysisMode=FULL

#578 ArsFc opened 1 week ago
1
CADD 1.7 and ReMM 0.4

#577 paolomaccallini-hub opened 3 weeks ago
0
No known disease

#576 pnrobinson opened 1 month ago
2
Phasing using Gnomad data

#575 damiansm opened 1 month ago
0
Running exomiser on vcf with multiple probands and multi family ped

#574 vinoekat opened 1 month ago
3
Unable to deserialise data

#573 lt11 closed 2 months ago
5
Exomiser Cli Version 14.00 Distroless Internal Singularity Path

#572 yr542 opened 2 months ago
1
Incorrect PVS1 assignment for ANY / AR LOF variants

#571 julesjacobsen closed 2 months ago
0
Finished Analysis .. but failing.

#570 rfarhad closed 2 months ago
2
Output CADD Phred Score instead of CADD raw score

#569 rfarhad opened 2 months ago
0
Update CLI to use JCommander

#568 julesjacobsen opened 2 months ago
0
Add custom pathogenicity score source

#567 davidfstein closed 2 months ago
2
CADD score normalization

#566 icooperstein opened 3 months ago
2
ArrayIndexOutOfBoundsException in FrequencyData.maxFrequency()

#565 pzweuj closed 2 months ago
2
Mode of inheretance pedigree

#564 bioinfogit opened 4 months ago
1
Add support for STR prioritisation from ExpansionHunter calls

#563 julesjacobsen opened 4 months ago
0
I need help with the following Exomiser error.

#561 lucian-mihai closed 6 months ago
1
exomiser_variant_tsv_output_CLINVAR_PRIMARY_INTERPRETATION_column, frequency scores and disease associations

#560 reversetosanam closed 4 months ago
9
Exomiser v14.0.0 is not recognizing unstructured key meta-information as a valid header line.

#559 ShrutiMarwaha opened 6 months ago
3
Update JSON output to JSONLines

#558 julesjacobsen opened 7 months ago
2
False positive hits to Orphanet copy-number diseases.

#557 julesjacobsen opened 7 months ago
3
Dependence of variant rankings on other variants?

#556 cbohrson opened 7 months ago
2
`java.nio.file.AccessDeniedException: /app/classes/results` / empty results

#555 matentzn closed 8 months ago
4
Broken URLs in tutorials

#554 matentzn closed 3 weeks ago
2
Annotate all variants in the VCF file with exomiser score and ACMG

#553 Bioinf-usr opened 8 months ago
5
Usage of alphamissense

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

#550 julesjacobsen opened 8 months ago
0
Fix DOI URLs in publications.rst

#549 cmungall closed 8 months ago
1
Whitespace in INFO field

#548 AlistairNWard opened 8 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 8 months ago
2
SpliceAI in exomiser-14

#546 massiddamt closed 4 months ago
10
Links need to updated

#545 Bioinf-usr closed 8 months ago
2
Exomiser logs to /tmp/spring.log, causing clashes in shared user environments

#541 oneillkza closed 9 months ago
4
Assistance Needed: Exomiser Error - Fully-Closed Coordinates Out of Contig Bounds

#540 1995Q closed 9 months ago
1
RPPR stats from grainyhead?

#539 matentzn closed 9 months ago
1
Data for REMM is not configured

#538 HongyuanChu closed 8 months ago
2
Unable to deserialise data

#537 lpsyy closed 8 months ago
3
No Passed Filter variant

#536 abrusell opened 10 months ago
1
Some conflicting ClinVar interpretations could be displayed with better information

#535 pnrobinson closed 10 months ago
2
Variant frequency and/or pathogenicity annotations missing

#534 julesjacobsen closed 4 months ago
1
how to built personal input files

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

#532 lpsyy closed 10 months ago
0
Variants Removed but Not Filtered

#531 SophieS9 closed 8 months ago
9
Log out notification for users running old data versions

#530 julesjacobsen opened 1 year ago
0
Sample parser is throwing error that does not respect Phenopacket schema

#529 lacek opened 1 year ago
0
Update allele frequency data to use gnomAD v4.0

#528 julesjacobsen closed 7 months ago
2
Fully-closed coordinates 1:249064688-249064690 out of contig bounds [1,248956422]

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

#524 julesjacobsen opened 1 year ago
0
Fail: Individual cannot have a null or empty identifier

#523 antonylebechec opened 1 year ago
0