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Issues list

Improved indel pathogenicity scoring Enhancement New feature or request
#26 opened Oct 3, 2024 by dnil
Naming of SMNCopyNumberCall tsv
#23 opened Jun 27, 2024 by dnil
Mastermind
#22 opened Jun 24, 2024 by dnil
NGSbits output compatibility
#13 opened Jan 29, 2024 by jemten
Add in analysis of CYP21A2? Enhancement New feature or request
#11 opened Oct 25, 2023 by KickiLagerstedt
Change pLI score to o/e Enhancement New feature or request
#10 opened Oct 4, 2022 by jemten
Annotating 5'UTRs Enhancement New feature or request
#3 opened Sep 22, 2021 by fulyataylan
gnomAD MNV Enhancement New feature or request
#4 opened Mar 16, 2019 by dnil
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