Test high-sensitivity mode on Dragen (mosaic) - Githubissues

imgag / megSAP

a Medical Genetics Sequence Analysis Pipeline

GNU General Public License v3.0

70 stars 20 forks source link

Test high-sensitivity mode on Dragen (mosaic) #216

Open marc-sturm opened 1 year ago

marc-sturm commented 1 year ago

Dragen 4.2 now offers a high-sensitivity mode: https://developer.illumina.com/news-updates/dragen-4-2-enhanced-machine-learning-new-targeted-callers-and-more

Dragen 4.3 imporves the high-sensitivity mode: https://developer.illumina.com/news-updates/dragen-v4-3

[ ] test it
[ ] test if the variants are flagged as mosaic, low-mappabiality, etc.

marc-sturm commented 1 year ago

Wait until v4.2 is available on NovaSeqX+