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

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