spacer

Nomenclature for the description of sequence variants

(last modified August, 2011)

Prepared by Johan den Dunnen

Join HGVS

FAQ
Variation Databases & Related Sites

Recommendations
Waystation/Central Database project
Meeting Reports
Newsletters
Meetings of Interest
Relevant Publications
Contact Us

 

 

NOTE

Important notice - we are currently restructuring these pages. Pages marked with v2.0 have ben updated, thos without this mark not yet. In addition some links might temporarily fail - our apologies for this (but do tell us !).

Contents

Versioning

  • Why versioning ?
  • Summary most important changes v2.0
  • Specified version listing (changes compared V2.0) 
  •  

Recent additions  -  (opinions please)

  • spacer OPINIONS PLEASE - RNA editing spacer
  • proposal for complex variants
                     
    (Peter Taschner et al. - Human Mutation 32:507-511)
  • uncertainties in descriptions 
    (incl. arrayCGH, SNP-array, Southern blot data)
  • slide presentation (as presented at the ESHG2007 meeting in Nice) 

Current recommendations

  • Introduction
  • General recommendations
  • use a Locus Reference Genomic sequence (LRG)
  • Specific recommendations
    • DNA-level
    • RNA-level
    • Protein-level

Background material

  • Nucleotide numbering
  • Standards  -  definitions, symbols, nucleotides, codons, amino acids (V2.0)
  • Checklist  - (online help when writing publications)

Example descriptions

  • DNA
  • RNA
  • Protein
  • Quick Reference   (simple examples)
  • Characters used
  • Codons and amino acids

Discussions

  • general
  • reference sequence
  • nucleotide numbering

FAQ (frequently asked questions) 

History  -  (list of publications)

Since references to WWW-sites are not yet acknowledged as citations, please mention den Dunnen JT and Antonarakis SE (2000). Hum.Mutat. 15:7-12 when referring to these pages.


Copyright
HGVS 2010 All Rights Reserved
Website Created by Rania Horaitis, Nomenclature by J.T. Den Dunnen - Disclaimer

gipoco.com is neither affiliated with the authors of this page nor responsible for its contents. This is a safe-cache copy of the original web site.