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Describing Sequence Variants Using HGVS Nomenclature.

Johan T den Dunnen1,2

  • 1Department of Human Genetics, Leiden University Medical Center, 9600, 2300RC, Leiden, The Netherlands. varnomen@hgvs.org.

Methods in Molecular Biology (Clifton, N.J.)
|November 9, 2016
PubMed
Summary
This summary is machine-generated.

DNA sequencing identifies genetic variants by comparing sequences to a reference. The Human Genome Variation Society (HGVS) nomenclature provides a standard for describing these sequence variants for easier reporting and databasing.

Keywords:
DNADatabaseMutationNomenclatureProteinRNAStandardsVariant

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • DNA sequencing is crucial for identifying genetic variations within an individual's genome.
  • Understanding these variants is essential for predicting their impact on RNA and protein levels.

Purpose of the Study:

  • To explain the basics of applying the Human Genome Variation Society (HGVS) recommendations for describing sequence variants.
  • To introduce a standardized nomenclature for reporting and databasing genetic variants.

Main Methods:

  • Comparison of obtained DNA sequences to a reference sequence.
  • Identification and recording of sequence differences (variants).
  • Prediction of variant consequences on RNA and protein levels.
  • Consultation of variant databases for previously reported findings.

Main Results:

  • The HGVS nomenclature provides specific formats for describing basic variant types: substitution, deletion, duplication, insertion, inversion, and conversion.
  • Standardized description facilitates variant reporting and databasing.

Conclusions:

  • The HGVS recommendations offer a standardized approach to describing DNA sequence variants.
  • This standardization is vital for consistent genetic variant reporting and database integration.