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Recently a high-resolution HLA and SNP map was defined and the analysis provided informative tag SNPs that capture much of the common variation in the MHC region.
In this way, the total number of tags to be screened was reduced, additionally favouring the collection of more informative tag derived at least partially from the coding region, and therefore facilitating functional characterization of the transcripts.
Four genes (IRF1, MSH2, MYC, OAS1) had only one informative tag or singleton SNP and were excluded from haplotype-based analyses, leaving N = 26 genes with a range of 2 to 14 tag and singleton SNPs for haplotype based analyses.
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"To be most informative, tags must collect data for up to 11 months or so to capture seasonal changes," Fedak noted.
Thus, all further analyses were restricted to the most informative tags that had been unambiguously assigned to a single location.
The most informative tags are those that appeared at least twice (less likely to contain sequencing artifacts) in the final tag list.
Analysis of the expression patterns of these genes using DGE indicated that very few unique tags aligned to the ORF of these genes, partly due to the similarity in gene sequence between all three PGK gene copies reducing the number of informative tags.
In the absence of comprehensive haplotype maps from which informative tagging SNPs could be derived, the greatest success will be achieved by a method that employs artificial haplotype creation or control and that genotypes with SNPs from the same population, as we have done here.
For example, in one tag profiling study with mice that used a con-specific reference, the collective percentage of ambiguously or non-mapping and thus non-informative tags was as little as 12% [ 5].
To reduce genotyping costs, a small subset of informative SNPs (tag SNPs) was selected using Tagger and JMP-Genomics software.
The program LDSelect [ 16] was used to select a set of maximally informative haplotype tag (ht) SNPs with the restriction that the literature SNPs -607 C/A and -137 G/C be included.
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