Issues

• Pipeline not using fasta from igenomes

  bug
  nf-core/raredisease#934 · Filter by author asp8200 opened on Jul 17, 2026
  1

• Add optional parameters for SV/SNV filtering and calling configuration

  enhancement
  nf-core/raredisease#822 · Filter by author ktruve opened on Apr 27, 2026

• cnvnator/cnvnator: Wave container fails with missing assert.h on Red Hat Enterprise Linux 8

  bug
  nf-core/raredisease#817 · Filter by author ktruve opened on Apr 20, 2026
  3

• Add MIVMIR, GICAM models for SNV ranking

  enhancement
  nf-core/raredisease#816 · Filter by author torbjorgen opened on Apr 20, 2026
  

• SPLIT_MULTIALLELICS_SEN: --multiallelics -both causes indel precision degradation (~4%) in single-interval runs

  bug
  nf-core/raredisease#813 · Filter by author ktruve opened on Apr 16, 2026
  15

• test config igenome configurations are wrong

  bug
  nf-core/raredisease#681 · Filter by author kubranarci opened on Feb 25, 2025
  1

• To fix before next releases

  enhancement
  nf-core/raredisease#663 · Filter by author maxulysse opened on Jan 15, 2025
  3

• Mosdepth coverage report of WES regions

  nf-core/raredisease#645 · Filter by author sitems opened on Nov 10, 2024

• Split deepvariant pipeline

  enhancement
  nf-core/raredisease#614 · Filter by author fa2k opened on Sep 20, 2024
  1

• Allow multiple unrelated cases/families in samplesheet.csv

  enhancement
  nf-core/raredisease#604 · Filter by author sitems opened on Aug 22, 2024
  1

• https://ai.marrvel.org / how to integrate to Scout and our analysis?

  nf-core/raredisease#560 · Filter by author fulyataylan opened on May 27, 2024
  5

• DeepMind AlphaMissense

  Effort lowenhancementon hold
  nf-core/raredisease#427 · Filter by author dnil opened on Sep 20, 2023
  9

• Add BPHunter

  feature-requeston hold
  nf-core/raredisease#424 · Filter by author ramprasadn opened on Sep 11, 2023

• Customize aws full pipeline tests

  enhancement
  nf-core/raredisease#318 · Filter by author ramprasadn opened on Mar 25, 2023 · Release 1.3.0

• Add full sized test dataset

  enhancement
  nf-core/raredisease#316 · Filter by author ramprasadn opened on Mar 25, 2023 · Release 1.3.0

• WisecondorX for aneuploidy and gender detection

  enhancement
  nf-core/raredisease#198 · Filter by author kvn95ss opened on Aug 3, 2022
  1