svanna-core
- Fix bug leading to wrong query coordinates for getting the population variants.svanna-cli
- Fix logback configuration.
SvAnna
-SvannaVariant
has aGenomicVariant
and it is not aGenomicVariant
anymore. - Updated dependencies: phenolv2.0.0-RC2
, phenopacketsv2.0.0
, protobufv3.14.0
, spring-boot-starter-parentv2.6.7
. - Simplify the documentation. - Change the namespace.svanna-cli
- Remove the config YAML file and expose the CLI parameters instead.svanna-ingest
- Ingest the resources into a ZIP file, calculatesha256
checksums.
- changes required for benchmarking the other SV prioritization tools
- drop Jannovar
- Treat deletion and duplications that affect CDS but do not change the reading frame in a milder way
- Drop the TAD idea and only evaluate the variant with respect to the overlapping genomic elements
- Externalize gene model and gene definition sources
- Report a track with dosage sensitive regions in the HTML report
- Store gene/disease/phenotype mapping in the database instead of the files in the data directory
- Improve logging - create a log file in the current working directory and store
DEBUG
info in the file
- Bug fixes - fix null pointer that was thrown when processing translocation that involved non-primary contig (alt, unplaced, etc.) - fix incorrect generation of SVGs for translocation
- Implement VCF output format
- Clean up the repo from the obsolete code
- Improve documentation & test coverage
- Bug fixes
- remove null pointer in
GeneService
- do not run coverage filter if the coverage data is missing for a variant
- Rename
annotate
CLI command toprioritize
- Multiple minor adjustments
- Major progress in algorithm development
- Adding phenopacket support