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Meet us at ESHG 2026

Piotr
GeneBe maintainer

We are happy to share that we will be attending the European Society of Human Genetics Conference 2026 (ESHG 2026).

If you are interested in constitutional CNV interpretation, ACMG/ClinGen scoring, automated variant classification, or practical integration of variant annotation tools into diagnostic and research workflows, please come by and say hello. We will be happy to meet in person, discuss examples, exchange feedback, and talk about possible use cases for GeneBe.

We will present the following poster:

Improving consistency of constitutional CNV classification through automated ACMG/ClinGen scoring Poster number: P21.010.D

About the poster​

The poster presents an extension of the GeneBe variant interpretation framework to support automated ACMG/ClinGen-based scoring of constitutional copy-number variants (CNVs).

Interpretation of constitutional CNVs according to ACMG/ClinGen technical standards requires structured evaluation of multiple evidence categories and quantitative point assignment. Manual application of these recommendations can be time-consuming and may contribute to inter-observer variability.

The CNV scoring module in GeneBe evaluates genomic coordinates, gene content, dosage sensitivity information and relevant genomic annotations to assign evidence categories and compute cumulative scores leading to final classification. The module incorporates publicly available resources, including ClinVar, gnomAD SV and gene-level annotations, to provide the most informative evidence-based suggestions possible.

A key goal of the framework is not only automated scoring, but also intuitive visualization of the underlying evidence. Results are presented in an interactive environment where experts can inspect the genomic context, review activated criteria, compare supporting annotations and evaluate individual point contributions.

The goal is to support transparent, reproducible and criteria-level review of CNV classifications, while keeping expert interpretation central to the decision-making process.

Live examples​

The following examples demonstrate automated CNV scoring in GeneBe:

These pages illustrate how GeneBe presents CNV-level annotations, activated ACMG/ClinGen criteria, point contributions and final classification in an interactive report.

Programmatic access​

In addition to the web interface, GeneBe provides programmatic access for variant annotation and integration with analytical workflows.

API documentation is available here:

Poster​

The poster PDF will be made available on this page.

Acknowledgements​

We would like to thank collaborators, clinical analysts and users who provided feedback during the development and evaluation of the CNV scoring module. Their comments and practical experience were essential for improving the transparency and usefulness of the implementation.

Contact​

If you are attending ESHG 2026, we would be very happy to talk in person. Please feel free to visit the poster, ask questions, suggest examples, or discuss possible integrations and future development directions.

See you at ESHG 2026!