[GET-dev] het R?

Abraham Rosenbaum rosenbaum4 at gmail.com
Tue May 25 10:57:09 EDT 2010


Hi Kim,
This is one of the rare cases where neither of the two alleles are
reference. In this case the ref allele is T and the called SNPs are
G/A. The original file from CGI reports:

amr13 at orchestra:/groups/pgp/amr/CGI_19240$ zgrep 104487265
var-GS000000088-ASM.tsv.gz
15346429        2       1       chr14   104487264       104487265
 snp     T       G       165     2143545
15346429        2       2       chr14   104487264       104487265
 snp     T       A       165     2143546

-Abraham

On Tue, May 25, 2010 at 10:33 AM, Kimberly Robasky <krobasky at gmail.com> wrote:
> http://evidence.personalgenomes.org/AHNAK2-E1856D
>
> What is the meaning of this?:
> NA19240
> het R @ chr14:104487265
>
> I thought acceptable values were AGCT?
>
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>




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