P4 validated on 2141 vendor GTCs; legacy AutoCall 1.6.2 preset
- vendor comparison (1000 Genomes Omni2.5, AutoCall 1.6.2.2): every computed field identical in 2138/2141 samples; the 3 others trace back to the single-locus raw-intensity rule (K-009); sex rule 1 matches all - AutoCall 1.6.2.x leaves GC10/GC50/#calls/#no-calls at 0 in GTC v3: new `--preset autocall-1.6.2` (1.1.2 normalization, sex rule 1, GTC v3, legacy statistics); the sample summary keeps the real statistics - NaN sign canonicalised to the x86 pattern (K-014); report P4.md
This commit is contained in:
1 parent
e6cf273ab4
commit
d11226ca31
9 files changed
+792
-29
No files matched your search
@@ -9,10 +9,10 @@ Personal research toolkit for Illumina Infinium genotyping BeadChip data
|
||||
|
||||
## Status
|
||||
|
||||
Phases **P0 (setup)**, **P1 (file parsers)**, **P2 (canonical model, raw X/Y)** and **P3 (normalization)** are
|
||||
complete — see `docs/validation/`. Each is validated on 2141 vendor GTCs of the 1000 Genomes Omni2.5 set
|
||||
(normalization transforms bit-identical).
|
||||
Available commands: `simurg version`, `simurg inspect <files…> [--json]`, `simurg ingest`, `simurg normalize`.
|
||||
Phases **P0 (setup)**, **P1 (file parsers)**, **P2 (canonical model, raw X/Y)**, **P3 (normalization)** and **P4 (genotype
|
||||
calling, GTC output)** are complete — see `docs/validation/`. Each is validated on 2141 vendor GTCs of the 1000 Genomes Omni2.5 set
|
||||
(normalization bit-identical; genotypes/scores identical in 2138/2141 samples).
|
||||
Available commands: `simurg version`, `simurg inspect <files…> [--json]`, `simurg ingest`, `simurg normalize`, `simurg genotype`.
|
||||
|
||||
## Quick start
|
||||
|
||||
|
||||
Reference in new issue
Block a user