Search results

VRS GICAM: Support gzip output

Status: Open.

#377 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 29, 2026

VRS explanation model using intergenic variants

Status: Open.

#376 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 29, 2026

VRS/Mivmir: Add --version flag

Status: Open.

#375 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 24, 2026

VRS/MIVMIR: Allow user configureable inference VCF name

Status: Open.

#374 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 24, 2026

HPO-variant score: Add gene expressed tissue meta

Status: Open.

#369 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 13, 2026

HPO-variant score: Suggest Differential diagnosis, HPO terms

Status: Open.

#368 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 13, 2026

Mivmir validation: Compute threshold for set recall per gene panel

Status: Open.

#367 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 13, 2026

Mivmir: Clinvar Uncertainty in training and inference

Status: Open.

#366 In Clinical-Genomics/rdds;

· torbjorgen opened on Apr 13, 2026

Upgrade python -> 3.10

Status: Open.

#365 In Clinical-Genomics/rdds;

· torbjorgen opened on Mar 6, 2026

Processpool: Sync Run() does not propagate subprocess exceptions to caller"

Status: Open.

#364 In Clinical-Genomics/rdds;

· torbjorgen opened on Feb 27, 2026

Improve variant interpretation using phenotype information

project-plan

Status: Open.

#363 In Clinical-Genomics/rdds;

· torbjorgen opened on Jan 13, 2026

Project plan for AI enabled variant-resource exploration tool

project-plan

Status: Open.

#362 In Clinical-Genomics/rdds;

· torbjorgen opened on Dec 17, 2025