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

Status: Open.

#150 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Remove usage of most_severe_consequence INFO field in raredisease SV rank model

Status: Open.

#149 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Remove usage of most_severe_consequence INFO field in raredisease SNV rank model

Status: Open.

#148 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Set correct consequence priority for raredisease SV rank model

Status: Open.

#147 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Set correct consequence priority for raredisease SNV rank model

Status: Open.

#146 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Set correct consequence priority for Nallo SV rank model

Status: Open.

#144 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Set correct consequence priority for Nallo SNV rank model

Status: Open.

#143 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Remove usage of most_severe_consequence INFO field in Nallo SNV rank model

Status: Open.

#142 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

Remove usage of most_severe_consequence INFO field in rank models

Status: Open.

#141 In Clinical-Genomics/reference-files;

· fellen31 opened on May 27, 2026

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

Status: Open.

#133 In Clinical-Genomics/reference-files;

· fellen31 opened on Mar 23, 2026

How useful is ModelScore?

Status: Open.

#121 In Clinical-Genomics/reference-files;

· fellen31 opened on Dec 30, 2025

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

Status: Open.

#119 In Clinical-Genomics/reference-files;

· fellen31 opened on Dec 12, 2025