Skip to content

Commit

Permalink
docs
Browse files Browse the repository at this point in the history
  • Loading branch information
mbaudis committed Dec 19, 2023
1 parent ea5a097 commit 874d88b
Show file tree
Hide file tree
Showing 2 changed files with 18 additions and 2 deletions.
1 change: 1 addition & 0 deletions docs/technical-notes.md
Original file line number Diff line number Diff line change
Expand Up @@ -137,6 +137,7 @@ classDiagram
variant_type
...
}
```

## Data Query Model
Expand Down
19 changes: 17 additions & 2 deletions docs/use-cases.md
Original file line number Diff line number Diff line change
Expand Up @@ -9,7 +9,7 @@ One of the main use cases for the Progenetix resource is the exploration of freq
- the overall amount of CNVs in the samples
- the local specificity, i.e. the "focality" of the CNVs

The [Progenetix Search Page](http://progenetix.org/biosamples/) supports the exploration of regional CNVs through
The [Progenetix Search Page](http://progenetix.org/search/) supports the exploration of regional CNVs through

* support for inserting positions of genes or cytobands into standard Beacon query parameter fields
* selection support for hierarchical disease annotations
Expand All @@ -19,7 +19,22 @@ The response of the queries for genomic variants provide some basic statistics,

### Example Procedure

**TBD**
* go to the [Progenetix Search Page](http://progenetix.org/search/) (or the equivalent
page at other resources)
* retrive the gene coordinates by clicking the `Gene Spans` button and typing the
start f a HUGO gene symbol (e.g. `CDK`); select the gene of interest
* the panel should now show the coordinates (start + end + reference/chromosome);
select `Apply` to insert the values into the form
* the values represent the genome coordinates for the maximum coding region of the
gene; if you want to include the flanking regions, you can change the values
accordingly or convert into a bracket query by changing those to ranges around
start end end
- e.g. change the `start` value from `60778331` to `60000000-60778330` and the
`end` value from `60794852` to `60794853-61500000`; here the start bracket
and the end brackets cover regions just outside the CDR, e.g. to match small CNVs
that cober the whole region
* select the `Variant Type`
* `Query Database`

---

Expand Down

0 comments on commit 874d88b

Please sign in to comment.