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Using HGVS nomenclature for DNA sequence changes

In this video Dr Maria Jackson explains the basics of the HGVS nomenclature system, which is a universal language for describing DNA sequence changes

Just as alterations in chromosome structure and number are described using the International System for Human Cytogenetic Nomenclature (ISCN), changes to the DNA sequence are also described by an internationally agreed system, known as HGVS nomenclature.

If you visit the HGVS nomenclature website you will see that the system is very detailed and complex, but it is essential to have such a common language so that scientists across the world can each understand what the others have reported.

In other parts of this course you will see HGVS nomenclature used to describe variants in DNA sequences – when you see the nomenclature in a video or article you might want to pause and review the meaning to help familiarize yourself with the HGVS system.

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