Describing sequence variants

Nomenclature for the description of sequence variations

(last modified October, 2007)

Prepared by Johan den Dunnen

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Contents

Recent additions - (opinions please)

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

uncertainties in descriptions
(incl. arrayCGH, SNP-array, Southern blot data)

Current recommendations

Introduction

General recommendations

Specific recommendations

DNA-level

RNA-level

Protein-level

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.

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