-
Notifications
You must be signed in to change notification settings - Fork 70
Pull requests: nf-core/raredisease
Author
Label
Projects
Milestones
Reviews
Assignee
Sort
Pull requests list
Remove most_severe_consequence script; score CSQ via genmod directly
#1032
opened Sep 18, 2026 by
ramprasadn
Collaborator
•
2/2
Loading…
8 of 12 tasks
Add --genmod_skip_plugin_check param for genmod score
#1031
opened Sep 18, 2026 by
ramprasadn
Collaborator
•
1/2
•
Draft
3 of 12 tasks
Rename --manta_call_regions to --sv_call_region for naming consistency
#1030
opened Sep 16, 2026 by
ramprasadn
Collaborator
•
Draft
12 tasks
Replace --call_interval with --snv_call_region for DeepVariant and Sentieon
#1028
opened Sep 16, 2026 by
ramprasadn
Collaborator
•
Draft
12 tasks
Fix MitoSAlt reformat.sh OOM from hardcoded -Xmx100g
#1027
opened Sep 16, 2026 by
ramprasadn
Collaborator
•
Draft
12 tasks
Add a sex-resolved PED file for GENMOD
#1026
opened Sep 14, 2026 by
ramprasadn
Collaborator
•
3/3
Loading…
Use meta.analysis_sex for DeepVariant, vcf2cytosure and Gens
#1022
opened Sep 10, 2026 by
ramprasadn
Collaborator
•
2/3
Loading…
Add --sex_source: optionally use the ngs-bits estimated sex (ExpansionHunter)
#1020
opened Sep 10, 2026 by
ramprasadn
Collaborator
•
1/3
Loading…
Use NGSbits SampleGender for ExpansionHunter sex
#1018
opened Sep 6, 2026 by
SagharT
Loading…
3 of 12 tasks
[dup] Add support for variant scoring by MIVMIR, GICAM models
#849
opened May 19, 2026 by
torbjorgen
Loading…
ProTip!
Find all pull requests that aren't related to any open issues with -linked:issue.