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Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.

Current protocols in human genetics - 1 Jul 2016

den Dunnen Johan T

Abstract excerpt

Consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome, in particular in DNA diagnostics. The HGVS nomenclature-recommendations for the description of sequence variants as originally proposed by the Human Genome Variation Society-has gradually been accepted as the international standard for variant description. In this unit, we...

Topics

DNA
Genetic Variation
Genome, Human
Humans
Internet
Molecular Sequence Annotation
Mutation
Proteins
RNA
Societies, Scientific
Software
Terminology as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27367167
DOI: 10.1002/cphg.2

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