Describing sequence variants

OPINIONS PLEASE - RNA editing

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.

Nomenclature for the description of sequence variants

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

Recent additions - (opinions please)

Current recommendations

Background material

Example descriptions

Discussions

FAQ (frequently asked questions)

History - (list of publications)