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Issues list

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 updated Jun 27, 2021
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome curation
#186 opened Jul 13, 2021 by pnrobinson updated Jul 13, 2021
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 updated Jul 14, 2021
1
Deafness, autosomal recessive 118, with cochlear aplasia curation
#192 opened Oct 23, 2021 by pnrobinson updated Oct 23, 2021
Hypoplastic femurs and pelvis (Duplication with position effects) curation
#193 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
@ielis
294 kb insertion within the coding sequence of CCM2 curation
#153 opened Feb 6, 2021 by pnrobinson updated May 12, 2022
2
Support SV annotation result without other function like pathogenicity prediction
#222 opened Oct 15, 2022 by Overinterested updated Oct 15, 2022
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
8
feature request: processing of vcs from Delly
#243 opened Feb 26, 2024 by jessmewald updated Feb 29, 2024
1
Error Reading gencode.v38.genes.json.gz File in SvAnna CLI Tool
#242 opened Feb 23, 2024 by pragnapcu updated Oct 5, 2024
7
Is there any plans of svanna to annotate short tandem repeats in the future?
#248 opened Dec 16, 2024 by HongyuanChu updated Dec 16, 2024
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