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RESEARCH

ISCN Online


The Standard Reference Combining ISCN and HGVS Nomenclature.

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The Indispensable Reference

ISCN 2020 is an indispensable reference volume for human cytogeneticists, molecular biologists, technicians, and students for the interpretation and communication of human cytogenomic nomenclature.

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Anytime, Everywhere

The recent pandemic has made work from home the default option for many of us. There are therefore a number of practical advantages to having ISCN online and available anytime and everywhere. Geneticists and molecular biologists analyzing data will in this way always have an updated copy of the ISCN book at their disposal.

Why ISCN 2020 Online?

  • Extended with the content of the Human Genome Variation Society nomenclature, making chapter 16 of ISCN more comprehensive.
  • Search engine that makes access to the text easier to practitioners.
  • Supplemented with tools helping the ISCN specialists in their daily work.
  • Access to all previous ISCN editions for consultation purposes.

The International System for Human Cytogenomic Nomenclature (ISCN) offers the standard nomenclature that is used to describe any genomic rearrangement identified by techniques ranging from karyotyping to FISH, microarray, various region-specific assays, and DNA sequencing. Suggestions from the international cytogenetics community have been reviewed by the Standing Committee, an international group of experts nominated and elected by their peers.

What's New in ISCN 2020?

  • Due to the increased use of technologies such as microarray and sequencing which orientate chromosomes by nucleotide number from pter to qter, the Committee decided to standardize this approach across all technologies, including banded chromosomes.
  • It was decided to present sex chromosome abnormalities before those affecting autosomes for all technologies.
  • The nomenclature now also clarifies whether rearrangements are inherited intact or partially as a derivative.
  • Finally, the Committee identified the needs for specific nomenclature to the analysis of polar bodies, and to improve the existing nomenclature based on sequencing technologies.

Is the Online Version of the Book Identical to the Print Edition?

  • Yes, both contain exactly the same text.
  • The online version text will always be identical to the latest printed version, guaranteeing no versioning or confusion between the online and the printed edition.
  • The HGVS nomenclature will follow the latest guidelines available at https://varnomen.hgvs.org/

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