Satmut-utils

Latest version: v1.1.2

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1.1.4dev

Fixed bug in HGVS annotations for out-of-frame duplications > 1 nt.

1.1.3dev

Ensure HGVS annotations use uppercase bases to ensure compatibility with MAVEdb.

Fixed run_mave_hgvs_annot.py script to require target BED and fix bug in deletion-insertion MAVE-HGVS string.

1.1.2

Fixed bug in HGVS annotations for out-of-frame duplications > 1 nt.


Release Summary:

1.1.2dev

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 for post-processing *summary.txt files to adjust HGVS positions relative to target regions as opposed to a coding sequence.

1.1.1

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.

1.1.1dev

Fixed unintended reversion to 1.1.0-dev-multi logic for MNP calling.

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