Dear all,

First and foremost, a Happy 2009 to everyone :)

I am a bioinformatics student from the National University of Singapore, 
working on a study on how to improve the current nomenclature standards 
for human SNPs. I hope to gather some useful feedback on the current 
problems bioinformaticians face regarding the current SNP nomenclature 
(What are the shortcomings of dbSNP rs numbers?).

Currently, publications and articles cite dbSNP rs numbers (rs#) to 
refer to particular SNPs. To the best of my knowledge, I understand that 
rs# are volatile (i.e they could be merged or deleted during every 
quarter-yearly revision by NCBI).
The missing or merged rs# could lead to confusion as we do not expect 
publications to be automatically updated with the latest dbSNP revision. 
Furthermore, from a database perspective, rs# are like indices for SNPs, 
and the idea of a volatile index creeps me out. Also, using rs numbers 
alone are not very intuitive in contrast with MGI's (e.g 
/Park2^rs6200232-G /    The /Park2 /rs6200232 SNP allele with the G 
variant.  http://www.informatics.jax.org/mgihome/nomen/gene.shtml )

With the reasons above (among other things), perhaps we may find a 
better SNP nomenclature than rs# for use in academia. I welcome any of 
your valuable feedback and suggestions!

Yours Sincerely,
Setoh
Bioinformatics student (NUS)
_______________________________________________
Genome maillist  -  [email protected]
http://www.soe.ucsc.edu/mailman/listinfo/genome

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