What's New
See individual changes below.
Features
- Add
OrchestrateV2E2ETestcovering entire "end-to-end" pipeline - Add
--disable-asm-coordinatesflag to build-spline-knots (CLI, YAML config, and OrchestrateV2 wiring) for gVCFs that lack valid ASM_Start/ASM_End coordinates
Bug Fixes
- Fix bcftools sort failures on recombined gVCFs missing
##contigheader declarations - Fix PHG gamete resolution failures when recombined sample names contained underscores
Breaking Changes
- Change recombined gVCF output files from
{target}_recombined.gvcfto{target}-recombined.gvcf
Installation
Download the appropriate archive for your system:
seq_sim-v0.5.0.tar- Unix/Linux/macOSseq_sim-v0.5.0.zip- Windows
Quick Start
# Extract the archive
tar -xf seq_sim-v0.5.0.tar
# or
unzip seq_sim-v0.5.0.zip
# Run the application
./seq_sim-v0.5.0/bin/seq_sim --helpRequirements
- Java 21 or higher
Full Changelog
Full Changelog: v0.4.4...v0.5.0