From 3b8a72dabfabbcba73248613d729a5d37118d68d Mon Sep 17 00:00:00 2001 From: Michael Baudis <675030+mbaudis@users.noreply.github.com> Date: Mon, 13 May 2024 16:42:54 +0200 Subject: [PATCH] Create 2024-05-16-hCNV-webcast.md --- docs/news/2024-05-16-hCNV-webcast.md | 20 ++++++++++++++++++++ 1 file changed, 20 insertions(+) create mode 100644 docs/news/2024-05-16-hCNV-webcast.md diff --git a/docs/news/2024-05-16-hCNV-webcast.md b/docs/news/2024-05-16-hCNV-webcast.md new file mode 100644 index 0000000..24fe925 --- /dev/null +++ b/docs/news/2024-05-16-hCNV-webcast.md @@ -0,0 +1,20 @@ +--- +template: post.html +title: 'The ELIXIR hCNV Community - Making complex genomics accessible' +description: 'ELIXIR Webcast' +template: post.html +authors: + - '@mbaudis' +date: 2024-05-16 +pdf_file_name: +links: + - '[ELIXIR event page](https://elixir-europe.org/events/elixir-hcnv-community-making-complex-genomics-accessible)' +--- + +#### Michael Baudis, Antonio Rausell & Krzysztof Poterlowicz + + +**Abstract** Genomic copy number variants (CNV) are a major contributor to human genome variation and important factors in rare disease genetics and cancer genomics. However, the complexity of CNV detection technologies, the lack of standardised annotation formats and the fragmentation of cytogenetic and genomic communities so far has limited large scale utilization of CNV profiles in computational genomics. + +Here, the ELIXIR hCNV community provides a group of experts with various (cyto-)genetic, genomic and computational backgrounds, working on common standards, implementations, workflows, training and documentation relevant for structural genome variation analysis, utilization and data sharing aspects. +