Issues

• Add STR loci for GOLGA8A, probably PRDM12, EP400, and possibly TBC1D7

  Clinical-Genomics/reference-files#151 · Filter by author dnil opened on Jul 2, 2026
  3

• Consider lowering the loqusdb SV -12 threshold for SVs in Nallo

  Clinical-Genomics/reference-files#150 · Filter by author fellen31 opened on May 27, 2026

• Remove usage of most_severe_consequence INFO field in raredisease SV rank model

  Clinical-Genomics/reference-files#149 · Filter by author fellen31 opened on May 27, 2026

• Remove usage of most_severe_consequence INFO field in raredisease SNV rank model

  Clinical-Genomics/reference-files#148 · Filter by author fellen31 opened on May 27, 2026

• Set correct consequence priority for raredisease SV rank model

  Clinical-Genomics/reference-files#147 · Filter by author fellen31 opened on May 27, 2026

• Set correct consequence priority for raredisease SNV rank model

  Clinical-Genomics/reference-files#146 · Filter by author fellen31 opened on May 27, 2026

• Set correct consequence priority for Nallo SV rank model

  Clinical-Genomics/reference-files#144 · Filter by author fellen31 opened on May 27, 2026

• Set correct consequence priority for Nallo SNV rank model

  Clinical-Genomics/reference-files#143 · Filter by author fellen31 opened on May 27, 2026

• Remove usage of most_severe_consequence INFO field in Nallo SNV rank model

  Clinical-Genomics/reference-files#142 · Filter by author fellen31 opened on May 27, 2026

• Remove usage of most_severe_consequence INFO field in rank models

  Clinical-Genomics/reference-files#141 · Filter by author fellen31 opened on May 27, 2026

• Set correct consequence priority for rank models using VEP CSQ instead of most_severe_consequence

  Clinical-Genomics/reference-files#133 · Filter by author fellen31 opened on Mar 23, 2026

• How useful is ModelScore?

  Clinical-Genomics/reference-files#121 · Filter by author fellen31 opened on Dec 30, 2025

• Mismatches between order in variant_consequences files and the scores we set in our rank models

  Clinical-Genomics/reference-files#119 · Filter by author fellen31 opened on Dec 12, 2025
  2

• Evaluate use of STRchive STRanger json

  Clinical-Genomics/reference-files#116 · Filter by author dnil opened on Nov 28, 2025
  1

  

• Nallo: Add Sawfish CNV exclusion regions

  Clinical-Genomics/reference-files#114 · Filter by author fellen31 opened on Sep 25, 2025

• GMS reference-files?

  Clinical-Genomics/reference-files#113 · Filter by author fellen31 opened on Sep 15, 2025
  

• FLUFFY?

  Clinical-Genomics/reference-files#99 · Filter by author J35P312 opened on May 22, 2025
  2

• MIP SV rank model blank "variant type" category

  Clinical-Genomics/reference-files#82 · Filter by author dnil opened on Oct 31, 2024
  2