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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
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
294 kb insertion within the coding sequence of CCM2
curation
#153
opened Feb 6, 2021 by
pnrobinson
updated May 12, 2022
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
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
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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