annotate_region
Say what a genomic region holds in the reference tracks: the genes and RefSeq transcripts it overlaps, which complete coding sequences it CONTAINS (the only case where a residue-level design is honest), the DGV structural variants seen there in control populations with their frequencies, and how much of it lies in segmental duplications and how similar the best paralogue is. Every track answers with its authority, table and retrieval date. Coordinates are 1-based and inclusive, as a person writes chr17:41196312-41277500.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| end | Yes | last base of the region, 1-based and inclusive. | |
| build | Yes | the assembly the coordinates are on, by the UCSC name the cached tracks use (hg19, hg38). A build with no cached track is refused by name rather than answered empty. | |
| start | Yes | first base of the region, 1-based. | |
| _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. | |
| dosage | No | which DGV evidence is comparable: `loss` for a deletion call, `gain` for a duplication, `any` for either. Balanced and unclassified variant types (insertions, inversions) are never counted as dosage evidence, and the count of them is reported instead. Values: any (Either direction), loss (Loss), gain (Gain). | any |
| tracks | No | which tracks to read, comma-separated: `genes`, `dgv`, `segdups`. Unset reads all three. The coding verdict comes with `genes`. | |
| _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. | |
| chromosome | Yes | UCSC-style sequence name; a bare `17` or `X` is read as `chr17`/`chrX`. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| dgv | Yes | DGV records of comparable dosage with study, sample size, frequency and reciprocal overlap; the fraction of the region they cover; how many balanced or unclassified records were not counted; the track provenance | |
| genes | Yes | overlapping gene symbols, the ones with coding sequence in the region, and every transcript with the exons it touches; carries the track provenance | |
| coding | Yes | the coding verdict (none, noncoding, partial, whole), the complete CDSs the region contains, the partial ones with how much of each it holds, and the reason a residue-level action is refused when it is | |
| segdups | Yes | segmental duplications overlapping the region with their partner locus and identity, the fraction of the region they cover, and the track provenance | |
| summary | Yes | what each track answered for this region, generated from the run |