v1.1.1-dev-multi
Pre-release
Pre-release
·
3 commits
to satmut_utils_dev_multi
since this release
Fixed bugs in HGVS annotations for single in-frame insertions and MNPs spanning the CDS-3' UTR junction.
Ensure deletion-insertion annotations follow HGVS proposal SVD-WG010.
Added a script (run_mave_hgvs_annot.py) for post-processing *summary.txt files to adjust HGVS positions relative to target regions as opposed to a coding sequence.
Ensure HGVS annotations use uppercase bases to ensure compatibility with MAVEdb.
Fixed description of the call algorithm in the manual.