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Platform updates

Last update: 20250509

  1. ☆ Minor features
  2. ☆☆ Major features
  3. ☆☆☆ Milestones
  4. 🚀 Publication
TypeVersion dateRelease
🚀v2.0 20250509Pre-print: Application of qualifying variants for genomic analysis
🚀v4.0 20250325Pre-print: Quantifying prior probabilities for disease-causing variants reveal the top genetic contributors in inborn errors of immunity
🚀v2.0 20250320Pre-print: PanelAppRex aggregates disease gene panels and facilitates sophisticated search
🚀v1.0 20250317Pre-print: Archipelago method for variant set association test statistics
☆☆☆v2.0 20250301Main dataset DNA SNV and INDEL V2 (internal) data release
☆☆v1.0 20250123Dante report package live release
☆☆v1.0 20250120PanelAppRex package live release
☆☆☆v1.0 20250102Main dataset DNA SNV and INDEL V1 (internal) data release
☆☆v1.0 20241220PCA SNV and INDEL Design V1 release
v1.0 20241219Multiple QC metrics for WGS 3
☆☆v1.0 20241217Statistical Genomics Design V1 release
v1.0 20241217QV SNV and INDEL Design V1 release
☆☆v1.0 20241217DNA SNV and INDEL Design V1 release
v1.0 20241217Multiple QC metrics for WGS 2
v1.0 20241217Multiple QC metrics for WGS 1
v1.0 20241210Reference genome Update
☆☆v1.0 20241205Panels of all known (GE) disease associated genes implemented
☆☆v0.9 20240929GWAS implemented
v0.8 20240827Guru System Overview
v0.7 20240820Structural variants (SV) test methods
☆☆v0.6 20240807PCA biplot analysis with 1KG for ancestry
v0.5 20230823VSAT SetID configuration
v0.4 20230727BWA algorithm implemented for WGS
v0.4 20230727Fastp QC added
v0.4 20230727FASTQ processing added
☆☆v0.3 20230531Main annotation sources added
☆☆v0.2 20230425VSAT module to test genomics
☆☆v0.2 20230425ACAT module to test mulitomics
v0.1 20220701Design Document

Internal pre-prints