Replies to post #142331 on Biotech Values

[genisi]

I guess I should have said the ApoA1-Milano allele represents a "rare sequence variant", rather than a "rare SNP"

Yes, "rare sequence variant" as suggested by the people from Department of Speech Communication, University of Georgia and the Oxford English Dictionary, is correct but "rare SNP" isn't and is confusing.

You can cite all the old references you want...but my usage is far better than yours

They are not mine, this is how it is referred to in scientific publication. Here are some recent examples for Apoa-I Milano:

http://informahealthcare.com/doi/abs/10.1517/14712598.2011.557061

http://informahealthcare.com/doi/abs/10.1517/14712598.2011.557061
http://www.lipidworld.com/content/10/1/175

http://www.ncbi.nlm.nih.gov/pubmed/21914797

http://www.ncbi.nlm.nih.gov/pubmed/20869895

you insult yourself more than me when you cling to an arbitrary delineation as if is were some absolute distinction

Looking at the names of scientists using these terms, makes me feel more comfortable than insulted :-)

The link you've cited contains suggestions and recommendation to prevent confusion, which are very sensible but as you can see from reading the actual publications, the terms mutation, polymorphism and SNP are widely used and understanding the difference between these terms is the key to answer the question raised by urche in #msg-75751678.