From c7f3bab3c86675b5e75b7258e8fdf9dc14969d24 Mon Sep 17 00:00:00 2001 From: Michael Baudis <675030+mbaudis@users.noreply.github.com> Date: Mon, 30 Oct 2023 07:10:57 +0100 Subject: [PATCH] content edits --- README.md | 7 ++++--- docs/beacon-queries.md | 6 ++++++ docs/data-resources.md | 5 +++++ 3 files changed, 15 insertions(+), 3 deletions(-) diff --git a/README.md b/README.md index 59edf09..47b0be3 100644 --- a/README.md +++ b/README.md @@ -1,9 +1,10 @@ # [hCNV Reference Resources](https://cnvar.org/cnv-reference-resources/) -##### Data & tools for hCNV analysis with a focus on the distributed normal + +**Data & tools for hCNV analysis with a focus on the distributed normal** The site was started as a project of the [ELIXIR hCNV Community](https://cnvar.org) at the [Biohackathon Europe 2023](https://biohackathon-europe.org): - [A "batteries-included" open reference resource for human genomic copy number variants (CNV)](https://github.com/elixir-europe/biohackathon-projects-2023/tree/main/1) +**[A "batteries-included" open reference resource for human genomic copy number variants (CNV)](https://github.com/elixir-europe/biohackathon-projects-2023/tree/main/1)** -This sitecan b efound at [cnvar.org/cnv-reference-resources/](https://cnvar.org/cnv-reference-resources/). \ No newline at end of file +This sitecan be found at [cnvar.org/cnv-reference-resources/](https://cnvar.org/cnv-reference-resources/). \ No newline at end of file diff --git a/docs/beacon-queries.md b/docs/beacon-queries.md index 9fcab84..fcd9b1f 100644 --- a/docs/beacon-queries.md +++ b/docs/beacon-queries.md @@ -1,3 +1,9 @@ # Beacon CNV Queries +! hint "Beacon Project Query Documentation" + + The Beacon [project's documentation](http://docs.genomebeacons.org/variant-queries/#beacon-range-queries) includes examples for current queries enabling + discovery of CNVs (in resources supporting these formats). + + ==TBD== \ No newline at end of file diff --git a/docs/data-resources.md b/docs/data-resources.md index 26ec212..05e54f0 100644 --- a/docs/data-resources.md +++ b/docs/data-resources.md @@ -2,4 +2,9 @@ ## 1000 Genomes Dragen +While primarily focused on somatic variants from cancer genomics the Progenetix +resource also contains [CNV data from the 1000 Genomes Project](https://aws.amazon.com/blogs/industries/dragen-reanalysis-of-the-1000-genomes-dataset-now-available-on-the-registry-of-open-data/). + +* [1000 Genomes CNV](https://progenetix.org/progenetix-cohorts/oneKgenomes/) at Progenetix + ==TBD== \ No newline at end of file