Package index

X-CNV annotation and prediction

read_cnv()

Read and normalize a CNV table

validate_cnv()

Validate CNV records

annotate_cnv()

Annotate CNV records with X-CNV features

predict_cnv()

Predict X-CNV MVP scores

run_xcnv() xcnv()

Run X-CNV with a file-compatible interface

write_xcnv()

Write X-CNV-compatible output

Model and resources

xcnv_bundled_model()

Return the bundled published X-CNV model

load_xcnv_model()

Load an X-CNV model

xcnv_portable_model

Published X-CNV portable model

xcnv_resources()

Discover an X-CNV resource bundle

validate_xcnv_resources()

Validate an X-CNV resource bundle

xcnv_resource_manifest()

Show the X-CNV resource contract

xcnv_fixture_resources()

Locate the bundled deterministic fixture

xcnv_real_example()

Load the bundled real X-CNV example

cnv_resource_sources()

Recommended source authorities for constitutional CNV annotation

ACMG and ClinGen 2019 scoring

cnv_2019_criteria()

ACMG/ClinGen 2019 constitutional CNV criterion contract

derive_cnv_2019_evidence()

Derive objective ACMG/ClinGen 2019 CNV content evidence

score_cnv_2019()

Score transparent ACMG/ClinGen 2019 constitutional CNV evidence

classify_cnv_score()

Convert an ACMG/ClinGen 2019 CNV score to a five-tier classification