v0.25

holtgrewe released this 26 Apr 06:53

· 318 commits to main since this release

As in all recent releases, Jannovar is best installed through Maven Central.

overall

Changing HTSJDK version to 2.14.3
Using the one letter amino acid code in HGVS representation as default (changes in core, hgvs, htsjdk and cli). Now the cli option --3-letter-amino-acids works as expected.

jannovar-cli

Support for RefSeq GRCh37.p13 interim release
Support of new RefSeq headers
Using RefSeq GRCh38.p12 annotation instead of GRCh38.p7

jannovar-vardbs

Replacing whitespace with string when annotating from TSV file.

jannovar-htsjdk

Fixing bug in GenomeRegionSequenceExtraction. Error reports always sequences from the first contig in the referebnce file and not the requested contig. Affects only the cli command hgvs-to-vcf.

Assets 2