Search results

problem with L_poPathogenicText

Status: Open.

#316 In lgmgeo/AnnotSV;

· Jordi-Valls opened on Jan 28, 2026

Exomiser_gene_pheno_score always returns -1.0 in Docker container (gene symbol to ID conversion issue)

Status: Open.

#315 In lgmgeo/AnnotSV;

· kkmll opened on Jan 21, 2026

Exomiser Network unreachable

bugSomething isn't workingSomething isn't working

help wantedExtra attention is neededExtra attention is needed

HPOExomiser / PhenoGeniusExomiser / PhenoGenius

Status: Open.

#306 In lgmgeo/AnnotSV;

· abrusell opened on Nov 10, 2025

Major vs minor Annotations_* difference

Status: Open.

#305 In lgmgeo/AnnotSV;

· Stikus opened on Oct 31, 2025

Question about frameshift annotation in AnnotSV

bugSomething isn't workingSomething isn't working

Status: Open.

#300 In lgmgeo/AnnotSV;

· BOBOL513 opened on Sep 26, 2025

Trios Support analysis

Status: Open.

#288 In lgmgeo/AnnotSV;

· dbhayal9 opened on Jun 30, 2025

Invalid VCF according to VCF specification

VariantConvert

vcf output

Status: Open.

#261 In lgmgeo/AnnotSV;

· aligogon opened on Oct 9, 2024

AnnotSV BioConda Environment: Reference Issues For GRCh38

bugSomething isn't workingSomething isn't working

Docker/Singularity/Bioconda

help wantedExtra attention is neededExtra attention is needed

Status: Open.

#255 In lgmgeo/AnnotSV;

· yr542 opened on Sep 6, 2024

vcf errors

bugSomething isn't workingSomething isn't working

VariantConvert

Status: Open.

#245 In lgmgeo/AnnotSV;

· gevro opened on Jul 10, 2024

custom bed annotation. overlap within n bases

Status: Open.

#240 In lgmgeo/AnnotSV;

· blaverty opened on Jun 28, 2024

Unusual large memory needed for very large sized coupled BNDs

bugSomething isn't workingSomething isn't working

help wantedExtra attention is neededExtra attention is needed

SQL database integration

square-bracketed SV notationRelies on the variant-extractor tool (Rodrigo Martín), https://github.com/EUCANCan/variant-extractorRelies on the variant-extractor tool (Rodrigo Martín), https://github.com/EUCANCan/variant-extractor

Status: Open.

#232 In lgmgeo/AnnotSV;

· jamigo opened on Apr 26, 2024

How to rank/prioritize inversions?

ranking

Status: Open.

#223 In lgmgeo/AnnotSV;

· lgmgeo opened on Mar 21, 2024