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What remains to be established is positional information relating to the genes and any associated variants.
Moreover, for both traits there are yet to be found any associated variants of intermediate frequency (roughly between 0.05% and 2%), but hopefully the availability of high-throughput sequencing should begin to fill this gap.
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Fine scale mapping has not identified any other independently associated variants in the region.
Risk alleles can be assigned not only based on known associations, but also include nominally associated variants.
Also, SCARVAsnp takes into consideration the direction of association by effectively modelling positively and negatively associated variants.
None of the potentially associated variants from the HVSI region identified in the screening phase showed any greater evidence for association in our extension analysis (see Table 4).
Labor intensive experiments are typically required to identify the causal disease variants from a list of disease associated variants in the genome.
RA and T1D are known to share associated variants [28], [29].
Cytoskeletal functions were also highlighted with DISC1 'cis' variants, 'all DISC1 pathway variants' and 'all associated variants'.
Identifying associated variants is an important first step toward understanding novel aspects of the etiology of disease.
Initial publications for these novel, AD associated variants provided some hypotheses for each of the reported genes.
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CEO of Professional Science Editing for Scientists @ prosciediting.com