International nomenclature for genomics for complex numerical and structural abnormalities

With the advent of new technologies and deepening understanding of the nature of genomic aberrations and/or pathogenic variants, there is an increasing need for an international nomenclature to report complex genomic findings. The International System for Cytogenomic Nomenclature (ISCN) enables individuals to describe and communicate effectively normal and abnormal results found in their research or diagnostic studies. Globally, ISCN is used to describe numerical and structural variation, haplotypes, gene fusion and repeat expansion results at a genome level effectively and without ambiguity to clinicians, public databases and in publications. It provides a standard approach to describe any genomic rearrangement identified by karyotyping, FISH, microarray, genome mapping, DNA sequencing  and various region-specific assays. ISCN also incorporates, as applicable, whether the abnormality is inherited or de novo, the proportion of the sample with the aberration and the variant allele frequency (VAF).

ISCN 2024 represents one of the most significant reviews with the generic rules being codified, plus the inclusion of genome mapping, targeted karyotyping, targeted arrays, imprinted and fusion gene nomenclature.

This interactive workshop will present the recently released ISCN 2024, some complex examples, the educational platforms available through Genomic Quality Assessment (GenQA) to provide training and competency tools for laboratories and clinicians alike as well as an interactive question and answer session plus an audience quiz. This workshop is suitable for all staff working in genomics, especially those working in the field of cytogenomics. A basic knowledge of ISCN is required for this workshop.

Learning Objectives

1. Understand the rules and the practical application of cytogenomic ISCN nomenclature
2. The ability to differentiate when to apply ISCN or HGVS nomenclature
3. To be able to formulate and use the ISCN 2024 nomenclature in their own laboratories, clinical practices and in publications
4. To be able to apply ISCN for real complex examples