Skip to content

Commit

Permalink
Create 2024-05-16-hCNV-webcast.md
Browse files Browse the repository at this point in the history
  • Loading branch information
mbaudis committed May 13, 2024
1 parent 0156c06 commit 3b8a72d
Showing 1 changed file with 20 additions and 0 deletions.
20 changes: 20 additions & 0 deletions docs/news/2024-05-16-hCNV-webcast.md
Original file line number Diff line number Diff line change
@@ -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. <!--more-->

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.

0 comments on commit 3b8a72d

Please sign in to comment.