From 874d88b0e0bfd939cf1812cce58aa76ed9eadf31 Mon Sep 17 00:00:00 2001 From: Michael Baudis <675030+mbaudis@users.noreply.github.com> Date: Tue, 19 Dec 2023 12:16:32 +0100 Subject: [PATCH] docs --- docs/technical-notes.md | 1 + docs/use-cases.md | 19 +++++++++++++++++-- 2 files changed, 18 insertions(+), 2 deletions(-) diff --git a/docs/technical-notes.md b/docs/technical-notes.md index 9b90a0f9..1af697f0 100644 --- a/docs/technical-notes.md +++ b/docs/technical-notes.md @@ -137,6 +137,7 @@ classDiagram variant_type ... } + ``` ## Data Query Model diff --git a/docs/use-cases.md b/docs/use-cases.md index 0abe94c3..3c5e442a 100644 --- a/docs/use-cases.md +++ b/docs/use-cases.md @@ -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 @@ -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` ---