What's Changed
- Integration of the LOVD HGVS Syntax Checker
- Improvements to the handling of genes with gapped alignments between transcript and genomic reference sequences
- Adaptations allowing submission of VCF lines from VCF files
- Correct 3 prime shuffling across CDS and UTR boundaries
- Support for the HGVS Expanded Repeat syntax
- Selenon gene translation handling
- Improved handling of variants spanning from the CDS into the Termination codon and 3' UTR to adhere to HGVS guidelines
- Improved handling of uncertain positions
- Faster processing
Full Changelog: v3.0.1...v4.0.0