With the new edition of ISCN 2020, Karger offers the first online and interactive version of the International System for Human Cytogenomic Nomenclature (ISCN).
The ISCN Committee has created an updated version of ISCN 2020 with an extended version of the Human Genome Variation Society (HGVS) nomenclature. Both nomenclatures are now also available online.
The online platform also offers access to HGVS, which together with ISCN 2020 forms a comprehensive nomenclature. Tools that help practitioners in their daily work will increasingly supplement the online platform. For example, the karyotyping tool helps users to generate the correct nomenclature by gradually indicating the abnormalities observed on their karyogram. Next to the latest edition, the platform offers the possibility to view earlier PDF versions of the ISCN book, as well.
The further development of ISCN has already begun: In 2021, Karger Publishers is planning on offering their users a forum to get in touch with each other and discuss problems, changes, and updates. A Mutalyzer tool, used to verify the HGVS nomenclature, will also be integrated. In addition, the publishing house will offer educational courses on ISCN, HGVS, and Sequencing Quality Assurance based on Fast Facts-Medical Handbooks in preparation.
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