Describing sequence variants (original) (raw)

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NOTE: this website is frozen since May 1, 2016. It has been replaced by a new version at http://www.HGVS.org/varnomen. These pages serve as archival copy only.

Contents

Recent additions

• HGVS/HVP/HUGO Sequence Variant Description Working Group (SVD-WG)
• proposals open for comments: SVD-WG004 ISCN<>HGVS (open until Jan.15, 2016)
• decision on previous proposals
• follow HGVS on Facebook

Current recommendations

• Introduction
• General recommendations
• Versioning
  • HGVS versioning (all versions explained)
  • Version list (changes after V2.0)
• 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)
• The basics - slide presentation (updated Aug.2014)
• Checklist (online help when writing publications)

Example descriptions

• DNA
• RNA
• Protein
• Quick Reference (simple examples)

Discussions

• General
• Reference sequence
• Nucleotide numbering
• Proposal for description translocations (presented at HGVS2013, Peter Taschner et al.)
• proposal for complex variants
  (published:Peter Taschner et al., Human Mutation 32:507-511)
• RNA editing

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.