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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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Add support for STR prioritisation from ExpansionHunter calls
#563
julesjacobsen
opened
6 days ago
0
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
1 week ago
9
Exomiser v14.0.0 is not recognizing unstructured key meta-information as a valid header line.
#559
ShrutiMarwaha
opened
2 months 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
1 week ago
4
Update HTSJDK to allow reading of VCF v4.4 when available
#550
julesjacobsen
opened
4 months ago
0
Fix DOI URLs in publications.rst
#549
cmungall
closed
4 months ago
1
Whitespace in INFO field
#548
AlistairNWard
opened
4 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
4 months ago
2
SpliceAI in exomiser-14
#546
massiddamt
closed
1 week 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
4 months ago
2
Unable to deserialise data
#537
lpsyy
closed
4 months ago
3
No Passed Filter variant
#536
abrusell
opened
6 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 week 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
4 months ago
9
Log out notification for users running old data versions
#530
julesjacobsen
opened
8 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
9 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
10 months ago
0
Error with exomiser 13.2.1 Caused by: org.h2.jdbc.JdbcSQLNonTransientConnectionException:
#516
fionaelisa
closed
10 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 week ago
2
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