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

Area of Science:

• Genomics
• Bioinformatics
• Human Genetics

Background:

• Copy number variations (CNVs) are key drivers of genetic diseases and human cancers.
• High-throughput sequencing technologies offer potential for genomic screening but have limitations in efficient CNV detection.

Purpose of the Study:

• To establish a guiding framework for ELIXIR's human CNV Community.
• To define priority objectives and tasks for addressing CNV detection, interpretation, sharing, and training.
• To align activities within the ELIXIR Platforms strategy and international context.

Main Methods:

• The white paper is based on a strategy meeting of ELIXIR Node representatives in September 2018.
• It involves defining priority objectives and tasks for the human CNV Community.
• Suggestions are provided for aligning tasks with ELIXIR Platforms and international efforts.

Main Results:

• Identified challenges in CNV detection and interpretation using current sequencing technologies.
• Defined a strategic framework for the ELIXIR human CNV Community.
• Outlined priority objectives and tasks for advancing CNV research and application.

Conclusions:

• The ELIXIR human CNV Community has a crucial role in improving CNV analysis.
• A coordinated approach is needed to address challenges in CNV detection, interpretation, sharing, and training.
• The proposed framework will guide future contributions to human disease diagnostics and population genomics.