[SO-devel] allele, haplotype for human geneticists

[Marcela K. Tello-R. <tel...@cs...>]

Hi,

Is there any plan to include allele or haplotype in the SOFA ontology? 
They both could be considered a "sequence_variant" but it would be 
useful to be able to distinguish sequence variants involving a single 
base pair vs multiple (contiguous) base pairs.

In human genetics is common practice to refer to genetic variants 
involving a single SNP as "alleles", and  to multi-SNP variants as 
"haplotypes", but I know these same terms are used differently across 
organisms, and so it gets complicated to generalize...  Any suggestions 
on how to deal with this?

Thanks,

Marcela


-- 
Marcela Karey Tello-Ruiz, PhD
Cold Spring Harbor Laboratory
Williams #5
Cold Spring Harbor, NY 11724
Ph. 516-367-6985
Fax 516-367-6851