Change log pipeline 5.29

Features:

• 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

Enhancements:

• Improvement of de novo variant quality from DRAGEN

• Enhancement | Update revel generation script, change revel file path to fix GRCh38 bugs in revel data