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13 Open 114 Closed
13 Open 114 Closed
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Issues list

feature request: processing of vcs from Delly
#243 opened Feb 26, 2024 by jessmewald
1
Error Reading gencode.v38.genes.json.gz File in SvAnna CLI Tool
#242 opened Feb 23, 2024 by pragnapcu
7
Compatibility with phased assembly variant caller?
#237 opened Nov 21, 2023 by jessmewald
8
Gene/Genomic Region annotation in tabular format?
#227 opened Mar 7, 2023 by kerstinth
Support SV annotation result without other function like pathogenicity prediction
#222 opened Oct 15, 2022 by Overinterested
Support RefSeq transcripts
#207 opened Feb 17, 2022 by ielis v1
@ielis
de novo translocation OMIM:619539 curation
#194 opened Oct 23, 2021 by pnrobinson
Hypoplastic femurs and pelvis (Duplication with position effects) curation
#193 opened Oct 23, 2021 by pnrobinson
Deafness, autosomal recessive 118, with cochlear aplasia curation
#192 opened Oct 23, 2021 by pnrobinson
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome curation
#186 opened Jul 13, 2021 by pnrobinson
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder curation
#172 opened Jun 27, 2021 by pnrobinson
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease curation
#154 opened Feb 6, 2021 by pnrobinson
1
294 kb insertion within the coding sequence of CCM2 curation
#153 opened Feb 6, 2021 by pnrobinson
2
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