NEWS
XCNV 0.0.0.9000
- Bundled the published 41-node X-CNV classifier as a validated
runtime-neutral R data object, and made it the default when an annotation
resource directory does not supply an override. Runtime prediction remains
independent of XGBoost.
- Bundled a compact real ClinVar 72461/SOX2 example with its case-local X-CNV
annotations and objective GENCODE/ClinGen content evidence.
- Corrected the published-resource readers: LJB26
START == END records are
one-base points rather than empty BED intervals, LJB scores are selected by
their explicit site index, and the headerless merged-sample file retains its
first observation.
- Added an installable R package API for reading CNV tables, validating resource
bundles, computing X-CNV annotations, predicting MVP scores, and writing the
legacy table format.
- Added a small deterministic fixture and tinytest coverage, including an
independent R overlap oracle for the production DuckDB inequality join.
- Removed bedtools and XGBoost from the installed runtime. A deterministic
staging script converts a separately obtained XGBoost model to a validated,
tabular
xcnv-tree-v1 artifact; the package evaluates that artifact in R.
- Added an independently authored ACMG/ClinGen 2019 constitutional-CNV scoring
contract with provenance-required evidence rows, published score ranges,
criterion-group caps, and five-tier classification. A DuckDB-backed content
provider derives only sections 1, 2A, and 3 from explicit gene and ClinGen
dosage relations; case, phenotype, inheritance, partial-gene, and population
evidence remain curator/provider inputs.
- Recorded the pinned upstream compatibility scope and current resource
limitations.