KFDRC Germline Variant Worklfows
New All-in-one Workflow!
This release introduces the first all-in-one germline variant workflow for Kids First. The workflow wraps callers for CNV, SNV, and SV into a comprehensive production workflow. Please see the primary workflow documentation for information about the callers and methods.
Additional Fixes
We have updated the ClinVar reference. The old reference was missing several records and should not be used. Please delete it if you still have it.
Also:
- Most tools and workflows received upgrades to cwl 1.2
- Outputs were simplified and renamed for clarity
What's Changed
- 🐛 tumor-only/germline enabled by @dmiller15 in #29
- 🔧 fixes from benchmarking by @dmiller15 in #30
- 💽 modernize cnv wfs by @dmiller15 in #31
- ✨ germline variant workflow by @dmiller15 in #32
- ✨ annotate snvs by @dmiller15 in #33
- ✨ gvcf optional by @dmiller15 in #34
- 📚 release prep by @dmiller15 in #35
- 🏷️ update out names by @dmiller15 in #36
- 🐛 Fix ClinVar Input by @migbro in #37
Full Changelog: v0.4.4...v1.0.0