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monarch-initiative
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SvAnna
Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
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Use phenol v2.1.1
#247
ielis
opened
5 months ago
0
Update URLs after the repository move
#246
ielis
closed
6 months ago
0
Add `2402` data release
#245
ielis
closed
9 months ago
0
Update dependencies
#244
ielis
closed
9 months ago
0
feature request: processing of vcs from Delly
#243
jessmewald
opened
9 months ago
1
Error Reading gencode.v38.genes.json.gz File in SvAnna CLI Tool
#242
pragnapcu
opened
9 months ago
7
PSV threshold
#241
Tahyne
closed
9 months ago
1
Report unfiltered variants in HTML output.
#240
ielis
closed
9 months ago
0
Priotization output in HTML vs TSV report
#239
AidanGCr
closed
9 months ago
4
Release v1.0.4
#238
ielis
closed
1 year ago
0
Compatibility with phased assembly variant caller?
#237
jessmewald
opened
1 year ago
8
Update dependencies and build new data release
#236
ielis
closed
1 year ago
0
Read 0 Variants from bgzip VCF (bgzip version >= 1.17 or bcftools version >= 1.16)
#235
james-lawlor
closed
1 year ago
3
SVanna weird error gencode.v38.genes.json.gz
#234
Nelhachem
closed
1 year ago
2
homozygous and hemizygous SV
#233
charliechen912ilovbash
closed
1 year ago
6
Bump guava from 31.1-jre to 32.0.0-jre
#232
dependabot[bot]
opened
1 year ago
0
Quick Question on CHM13 compatibility
#231
jamesdalg
closed
1 year ago
3
Add `2304` data version.
#230
ielis
closed
1 year ago
0
Release v1.0.3
#229
ielis
closed
1 year ago
0
Update dependencies
#228
ielis
closed
1 year ago
0
Gene/Genomic Region annotation in tabular format?
#227
kerstinth
opened
1 year ago
0
Variant types not recognized ?
#226
JannahS
closed
1 year ago
2
Bump commons-net from 3.8.0 to 3.9.0
#225
dependabot[bot]
opened
1 year ago
0
Bump htsjdk from 2.23.0 to 3.0.1
#224
dependabot[bot]
closed
1 year ago
1
Short read support
#223
lisosome
closed
1 year ago
1
Support SV annotation result without other function like pathogenicity prediction
#222
Overinterested
opened
2 years ago
0
Release v1.0.2
#221
ielis
closed
2 years ago
0
Update dependencies
#220
ielis
closed
2 years ago
0
Fix bug in scoring of multi-gene inversions.
#219
ielis
closed
2 years ago
0
Using SVAnna in a trio VCF and withtou HPO terms
#218
prasundutta87
closed
2 years ago
1
Fix bug leading to wrong query coordinates for getting population variants.
#217
ielis
closed
2 years ago
0
EMPTY results?
#216
aojielian
closed
1 year ago
11
How to install and run SvAnna?
#215
aojielian
closed
2 years ago
2
Add ``--out-dir`` CLI option.
#214
ielis
closed
2 years ago
0
Ensure the docs are up-to-date.
#213
ielis
closed
2 years ago
0
Rework CLI, remove Spring, update the docs.
#212
ielis
closed
2 years ago
0
Calculate SHA256 checksums and store the resources into a ZIP file.
#211
ielis
closed
2 years ago
0
Update dependencies
#210
ielis
closed
2 years ago
0
Dosage region boxes stay within the SVG limits
#209
ielis
closed
2 years ago
0
No inheriting variant
#208
ielis
closed
2 years ago
0
Support RefSeq transcripts
#207
ielis
opened
2 years ago
0
Retain common base when lifting over and remove common base when benc…
#206
ielis
closed
2 years ago
0
Use SilentGenes v0.2.0
#205
ielis
closed
2 years ago
0
Changes required for benchmarking other tools
#204
ielis
closed
2 years ago
0
Use svart v2.0.0 RC1
#203
ielis
closed
2 years ago
0
Missing Disease associations?
#202
shiatt
closed
2 years ago
11
Fix incorrectly listed genes in the `examples.rst`
#201
ielis
closed
2 years ago
0
Update CI
#200
ielis
closed
2 years ago
0
Release v1.0.0-RC4
#199
ielis
closed
2 years ago
0
Triplohaplo
#198
pnrobinson
closed
2 years ago
0
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