New pipeline 5.29 (May 1st 2022)

Updates (August 25th 2022)

• 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

• Enhancement | Update revel generation script, change revel file path

Summary of Pipeline 5.29

• Emedgenizer for DRAGEN repeats with ExpansionHunter

• Added STR annotation engine for 1K Genomes and gnomAD

• Emedgenizer for DRAGEN SV caller

• Retrieve and write variant interpretation from Emedgene Curate

• Support for ICA2 storage