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The website of the Human Copy Number Variation Community (hCNV) is a resource originating in ELIXIR's h-CNV Community Implementation Study (2019-2021).

CNV News and Announcements

ELIXIR All Hands 2022 - h-CNV Representation

Workshop proposals | Amsterdam 7-10 June 2022

The hCNV community has been invited to participate in 3 workshops:

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hCNV Implementation Studies Old and New

Michael Baudis @ ELIXIR Human Data Communities

This presentation provided an overview about the hCNV community, implementation studies and ongoing work, e.g. interaction with the GA4GH VRS standard group and Beacon development.

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CNV Ontology Proposal - Now Live at EFO

EFO Ontology contains now terms for (relative) CNV levels

EFO copy number assessment treeAs part of the hCNV-X work - related to "Workflows and Tools for hCNV Data Exchange Procedures" and to the intersection with Beacon and GA4GH VRS - we have now a new proposal for the creation of an ontology for the annotation of (relative) CNV events. The CNV representation ontology is targeted for adoption by Sequence Ontology (SO) and then to be used by an updated version of the VRS standard. Please see the discussions linked from the proposal page. However, we have also contributed the CNV proposal to EFO where it has gotten live on January 21.

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hCNV Site now at cnvar.org

The homepage of the hCNV community has now been mapped to the cnvar.org domain.

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The Progenetix oncogenomic resource in 2021

An article about current state and recent changes to th eProgenetix resource

Qingyao Huang, Paula Carrio Cordo, Bo Gao, Rahel Paloots, Michael Baudis

Database (Oxford). 2021 Jul 17;2021:baab043.

DATABASE logoThis article provides an overview of recent changes and additions to the Progenetix database and the services provided through the resource.

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hCNV Community and Implementation Studies

Presentation at ELIXIR All Hands 2021

At the ELIXIR All Hands 2021 Human Data Day Michael presents a very brief overview of the ending and upcoming ELIXIR hCNV implementation studies.

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CNV Beacon at Biohackathon Europe 2020

CNV detection software containerisation and benchmarking

For the Biohackathon Europe (Nov 08-22), the hCNV project participates with a "containerisation" project.

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PR: The ELIXIR hCNV Community publishes its programme

ELIXIR h-CNV press release

The ELIXIR Community on Human Copy Number Variations (hCNV) has presented its work programme. In a paper published in the ELIXIR F1000R gateway, the Community defines seven strategic objectives to support human CNV detection and interpretation ... (please read on elixir-europe.org)

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The ELIXIR hCNV Community

White Paper Published @ F1000Research

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

Salgado D, Armean IM, Baudis M et al.

F1000Research 2020, 9 (ELIXIR):1229

Abstract

Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While “High-Throughput” sequencing technologies are increasingly becoming the primary choice for genomic screening analysis, their ability to efficiently detect CNVs is still heterogeneous and remains to be developed.

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HGVS 2019 Gothenburg

CNV Satellite Meeting @ Human Genome Variation Society - Gothenburg 2019

As a satellite meeting of the European Human Genetics Conference, the HGVS2019 meeting this year had a focus on human Copy Number Number Variations.

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h-CNV kick-off

h-CNV community kick-off meeting at ELIXIR All Hands in Lisbon

The h-CNV community had its kick-off meeting at the ELIXIR All Hands meeting in Lisbon, June 17-20 2019.

The meeting was used to present and discuss the different work packages and overall organisation of the project (slides attached).

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Launch of the ELIXIR h-CNV Community

A new ELIXIR community

The first h-CNV Community Implementation Study was officially launched on June 1st, 2019.

The project has an initial time span of two years. For further information please follow the link to the ELIXIR project page.

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