Dear Nanopore Community,
This release Wednesday we are pleased to include CNV detection in our human variation workflow, wf-human-variation. We introduce a new addition to the Oxford Nanopore Open Data project - the Genome In a Bottle Ashkenazi trio. Other functional and performance improvements are also described.
medakaimprovements noted for wf-bacterial-genomes above.
--combineoption to combine calls from all modified bases in a family. The previous behaviour was that the non-modified (canonical) count would be incremented. For example when searching for 5mC modifications with
-m 5mCand a 5hmC base was present, the read would contribute to the canonical count, not the modified count. See the README for more information.
We would be delighted to receive any feedback and welcome recommendations for future workflow or Oxford Nanopore Open Data releases.