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A scientific meeting of the Human Genome Variation Society

Satellite meeting to the European Society of Human Genetics' annual meeting.

Copy Number Variations or CNV are major causative contributors in the genesis of rare and common genetic diseases as well as human tumors. Despite their importance, their detection, collection, annotation and interpretation are still in their youth and much remains to be done. With the developments of the Next-Generation Sequencing technologies, especially Whole Genome Sequencing, which is increasingly becoming the primary choice for genomic screening analysis, new algorithms to efficiently detect all CNV types ranging from single exon to large genomic regions, and from germline to somatic events, are needed.

The aim of this Human Genome Variation Society meeting is to provide an overview of the most recent advances on this topic at the international level and to address more specifically;

  1. CNV detection pipelines
  2. availability of reference datasets
  3. data collection and sharing in FAIR environments, including specifications related to data formats and annotations required for efficient data interpretation; and
  4. specific tools for CNV interpretation. 

To speed-up international collaboration, a new Human Copy Number Variations Community (h-CNV) was created within ELIXIR. It will work in close interaction with the Global Alliance for Genomic and Health (GA4GH), the European Joint Project for Rare Diseases (EJP-RD) and other international initiatives. 

Scientific Program Committee

  • Christophe Béroud (Marseille, France)
  • Johan T. den Dunnen (Leiden, Netherlands)
  • Marc Greenblatt (Burlington, VT, USA)
  • Gary Saunders (Hinxton, UK)

Abstracts - Close 5th April 2019

Abstract Submission has closed

We invite abstracts to be submitted to the meeting within the theme of "Copy Number Variation" as both oral and poster presentations. We also welcome other abstracts with general "variation" themes but these will most likely be poster presentation only. Abstracts within the theme will be given priority for oral presentations. Please follow instructions on the Abstract page.

Keynote Speakers & Topics

Anna Benet-Pages

"CNV detection from exon capture data"


Michael Baudis

"Implementation Driven Development of Standards for Genomic Data Exchange from Cancer Genome Data Collections"


Victor Guryev

"Association analysis of SVs/CNVs using NGS data"


Sarah Hunt

"Annotation and display of structural variation data in Ensembl"


Damien Sanlaville

"hCNV in the context of the French Genomic Medicine 2025 Plan and the national BANCCO database"

Gary Saunders 

"ELIXIR, data federation, and the Human Copy Number Variation Community"



Meet our invited speakers

Baudis, Michael

Professor, Institute of Molecular Life Sciences, Swiss Institute of Bioinformatics, Univ. of Zurich
The focus of my research at the University of Zurich is the analysis of structural variations in... More

Benet-Pages, Anna

Head of Research and Development, Medical Genetics Centre (MGZ), Munich
Anna is head of the Development and Technology Transfer department at the Munich Medical... More

Guryev, Victor

Group Leader of the Laboratory of Genome Structure and Ageing, European Research Institute for the Biology of Ageing (ERIBA)
Victor Guryev was trained as molecular biologist at Novosibirsk State University and received... More

Hunt, Sarah

Ensembl Variation Project Leader, European Bioinformatics Institute

Sanlaville, Damien

Director of laboratory - Director of department, CHU de Lyon HCL
Service de génétique CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant 59... More

Saunders, Gary

ELIXIR Beacon Coordinator, ELIXIR Hub

Where will the meeting be held?


Room : J2

Mässans gata 24
SE 402 26 Göteborg, Sweden

(next to Swedish Exhibition and Congress Center where ESHG will be held)


Friday 14th June 2019

Registration opens: 8:00 am 

Meeting begins: 9:00 am

Meeting Ends: 5:00 pm 

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