Re: [SO-devel] allele, haplotype for human geneticists

[Judith B. <jb...@in...>]

just a comment that another way on this is to consider 'alleles' as 
'variants' of  <a> functional unit (gene) [different from isoform or 
splice form]

haplotypes might be considered as extended across a more extensive 
genomic region but not just because there is more than one SNP in a 'gene'.

judy

Marcela K. Tello-Ruiz wrote:
> 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
>
>
>