Support for Dragen 3.10 (support for Graph coming in 5.30)
Support for SV insertions called from Manta
Compound heterozygous filter supports SVs (in addition to CNV/SNV/indel)
Compound heterozygous feature for duos (single parent and proband)
Annotate cases with Emedgene Curate data
Support for DRAGEN repeats with ExpansionHunter. For customers using their own pipeline, custom header needs to be added to file.
Added STR annotation engine for 1K Genomes and gnomAD
Support for DRAGEN SV caller. For customers using their own pipeline, custom header needs to be added to file.
Retrieve and annotate with variant interpretation from Emedgene Curate
Support for ingesting files from ICA2 storage
Improvement of de novo variant quality from DRAGEN
Enhancement | Update revel generation script, change revel file path to fix GRCh38 bugs in revel data