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SV not called

Status: Open.

#2077 In Clinical-Genomics/MIP;

· ielvers opened on Feb 5, 2026

Loqusdb archive frequency not annotated for some BNDs

Status: Open.

#2074 In Clinical-Genomics/MIP;

· dnil opened on Nov 3, 2025

Deletion not reported in scout due to erroneous calls manta calls in reference db?

Status: Open.

#2073 In Clinical-Genomics/MIP;

· alieden opened on Jan 3, 2025

genmod --whole-gene deprecated

Status: Open.

#2072 In Clinical-Genomics/MIP;

· dnil opened on Nov 4, 2024

PEX6 managed 3'-variant not shown

Status: Open.

#2062 In Clinical-Genomics/MIP;

· MUebe opened on Oct 25, 2023

Simple (GenMod) rank for MEI

Status: Open.

#2046 In Clinical-Genomics/MIP;

· dnil opened on Jun 22, 2023

Not called deletion in mtDNA

Status: Open.

#2045 In Clinical-Genomics/MIP;

· 1ctw opened on Jun 9, 2023

Most severe consequence for MEI

Status: Open.

#2044 In Clinical-Genomics/MIP;

· dnil opened on May 29, 2023

most severe consequence polypyrimidine stretch

Status: Open.

#2031 In Clinical-Genomics/MIP;

· dnil opened on Apr 24, 2023

SV annotation - merge order looses some translocation annotation

Discuss

Status: Open.

#581 In Clinical-Genomics/MIP;

· dnil opened on Sep 20, 2018

Support for hg38 from fastq to ranked variants

Status: Open.

#95 In Clinical-Genomics/MIP;

· henrikstranneheim opened on Feb 11, 2016