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Issues list

Deafness, autosomal recessive 118, with cochlear aplasia curation
#192 opened Oct 23, 2021 by pnrobinson updated Oct 23, 2021
de novo translocation OMIM:619539 curation
#194 opened Oct 23, 2021 by pnrobinson updated Oct 23, 2021
Support RefSeq transcripts
#207 opened Feb 17, 2022 by ielis updated Feb 17, 2022 v1
Gene/Genomic Region annotation in tabular format?
#227 opened Mar 7, 2023 by kerstinth updated Mar 7, 2023
Compatibility with phased assembly variant caller?
#237 opened Nov 21, 2023 by jessmewald updated Dec 18, 2023
feature request: processing of vcs from Delly
#243 opened Feb 26, 2024 by jessmewald updated Feb 29, 2024
Error Reading gencode.v38.genes.json.gz File in SvAnna CLI Tool
#242 opened Feb 23, 2024 by pragnapcu updated Oct 5, 2024
ProTip! What’s not been updated in a month: updated:<2025-02-04.