15.1.0 2026-06-09
- The
pathogenicityFilternow has atargetoption to specify whether to filter non-coding variants. The default is
ALLbutNON_CODINGcan be specified to filter non-coding variants. This change only affects variants found in
non-coding regions. We recommend using the standardpathogenicityFilter{keepNonPathogenic: true}for exome analysis,
but when running genomiser (i.e. including REMM/CADD/SPLICE_AI and all non-coding regions) or any analysis including
non-coding regions, usepathogenicityFilter{keepNonPathogenic: false, target: NON_CODING}. See the documentation
for more details.
Updated examples/preset-genome-analysis.yml to use new defaults. UPDATE YOUR SCRIPTS TO USE THESE FOR IMPROVED ACCURACY.