copy_number_regions
Place an Affymetrix copy-number sample's own calls in ClinGen's curated regions: for each region, which gains, losses or stretches of homozygosity fall in it, at what reciprocal overlap, and how much of the region they cover between them.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| file | No | which copy-number file in this project, by name. Unset, it is the project's only one — and it refuses rather than guessing when there is more than one. | |
| build | No | which assembly's curated region list to place the calls on. Unset is the build THIS FILE states about itself, and the node refuses rather than guessing when it states none — a region is a pair of coordinates, and placing a call on the wrong assembly moves every boundary by hundreds of kilobases with nothing to show it. Values: hg19 (hg19 / GRCh37), hg38 (hg38 / GRCh38). | |
| _files | No | The project: record references shaped like _subject. Their records become library documents a tool names in sequences/parts/document; a trace or alignment is found by file name. | |
| regions | No | a BED region file in this project, by name, to check against INSTEAD of ClinGen's curated list — the laboratory's own panel, which is what ChAS calls the CytoRegion file. Unset is ClinGen. A BED line states no dosage score, so with this set every hit comes back with dosage null: the list says where to look and claims nothing about what a change there means. If the file states an assembly on its track line (`track ... db=hg19`) and it is not the build being read, the node refuses rather than moving every boundary by hundreds of kilobases. | |
| _subject | No | The record to act on: exactly one of sequence, accession (+source), sample (an id from list_samples) or file ({name, text} or {name, base64}); record_index picks one record of several. | |
| data_set | No | which data set to scan, by name. Unset is the file's FIRST, which is what the panel opens on. | |
| min_bases | No | ignore any call spanning fewer bases than this. Default 0, for the same reason as min_markers. Note a single-marker call spans 0 bases. | |
| min_markers | No | ignore any call shorter than this many markers. The default counts everything the file called, because a reporting floor belongs to the laboratory and not to this tool — and it is the same floor copy_number_findings applies, so both doors place the same calls. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| regions | Yes | one entry per curated region containing at least one call: id (the ISCA identifier a report cites), name, cytoband, chrom, start, end (0-based half-open), covered (fraction of the region the calls cover between them, each base counted once, so it never exceeds 1), counts by finding kind, and hits — each with the finding itself, overlapBases, reciprocalOverlap (the SMALLER of the two containment fractions, so a focal call inside a whole-arm region scores low rather than 100%), regionCovered, and dosage/dosageAxis: ClinGen's score and description for the axis that speaks to that call's direction, or null for LOH and mosaic events, which change no copy number | |
| summary | Yes | how many curated regions contain a call, out of how many were checked, on which build | |
| unplaced | Yes | curated regions ClinGen has NOT placed on this build — it states their location as 'tbd'. They carry id, name, cytoband and their dosage scores but no coordinates, so nothing could be checked against them. They are NOT clean: they are unchecked. Empty on hg19, which places all of them | |
| provenance | Yes | which region list answered: its authority, source URL, the curation date the file states, the assembly, and how many regions were placed and unplaced. A cached copy of an authority's table is only interpretable with its version beside it |