Skip to content

MT codon tables and Bayesian ACMG

Compare
Choose a tag to compare
@julesjacobsen julesjacobsen released this 26 Oct 10:30
· 113 commits to master since this release
13.3.0
48875d2
  • Updated Jannovar version to 0.41 to fix incorrect MT codon table usage #521
  • Downgraded PM2 - PM2_Supporting for variants lacking frequency information #502.
  • Updated Acgs2020Classifier and Acmg2015Classifier to allow for PVS1 and PM2_Supporting to be sufficient to trigger LIKELY_PATHOGENIC
  • Updated AcmgEvidence to fit a Bayesian points-based system #514
  • Removed ASJ, FIN, OTH ExAC and gnomAD populations from presets and examples #513.
  • Fix for regression causing <INV> variants to be incorrectly down-ranked
  • Fix for issue #486 where VCF output includes whitespace in INFO field.
  • Logs will now display elapsed time correctly if an analysis runs over an hour (!).

Full Changelog: 13.2.1...13.3.0

Assets 5
Loading
0 Join discussion