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AbSV cyclic and AbHV2 cyclic, but not AbSV linear or AbHV2 linear agglutinated homologous Opa variants, and AbHV2BD cyclic but not AbHV2BD linear blocked the association of OpaB variants with human endocervical cells.
Projects such as the 1000 Genomes Project are likely to reveal a much larger set of low frequency variants, but it remains a challenge to perform adequately powered association tests of such variants with human phenotypes.
Recent progress made by the International HapMap Project (Frazer et al., 2007) and improvements in genotyping technology have facilitated the use of genome-wide association studies for linking specific genetic variants with human disease.
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The differential interaction and processing of an aggregation-prone, disease-associated transthyretin variant with human cardiac cells, compared with a non-disease associated transthyretin mutant may explain the basis of the early events of tissue damage in the transthyretin amyloidoses.
A high number of predicted deleterious variants were identified per individual, with the overall frequency spectrum dominated by very rare (mostly singleton) variants, consistent with human population demography models.
Therefore, we evaluated enrichment of the SDS selection signatures on the variants associated with human complex traits in Japanese.
We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals.
An application to the GWAS summary results of the Genetic Investigation of ANthropometric Traits (GIANT) consortium reveals rare and low-frequency variants associated with human height.
Our study is one of the first to demonstrate that functional characterization of gene variants associated with human common complex diseases is feasible.
Repositories of DNA from patients seen in the clinical setting can be matched with the EMR and genotyping/sequencing conducted to identify genetic variants associated with human diseases as well as related quantitative traits.
There are many current gene-based resources containing knowledge on DNA variants associated with human diseases, such as The Human Gene Mutation Database (HGMD) [1], Genetic Association Database (GAD) [2], and Online Mendelian Inheritance in Man (OMIM) [3].
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