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Contents

Versioning

• HGVS versioning (all versions explained)

• Version list (changes after V2.0)

Recent additions

• HGVS variant description forum (incl. opinions on RNA editing)

• proposal for complex variants
                    (Peter Taschner et al. - Human Mutation 32:507-511)

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)

• slide presentation (as presented at the ESHG2007 meeting in Nice) 

• Checklist  (online help when writing publications) 

Example descriptions

• DNA

• RNA

• Protein

• Quick Reference   (simple examples)

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.

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