A unique capability of Endonuclease IV in discrimination of mismatches neighboring a natural abasic site in DNA strands has been demonstrated, which enables genotyping of SNPs with high discrimination factors and differentiation of as low as 0.1-0.01% of target DNA strands from a large background of single-base different interfering strands.

In applications such as medical statistics and genetics, we encounter situations where a large number of highly correlated predictors explain a response. For example, the response may be a disease indicator and the predictors may be treatment indicators or single nucleotide polymorphisms (SNPs). Constructing a good predictive model in such cases is well studied. Less well understood is how to r...

service Email alerting click here top right corner of the article or Receive free email alerts when new articles cite this article-sign up in the box at the

The literature on epistasis describes various methods to detect epistatic interactions and to classify different types of epistasis. Reconstructability analysis (RA) has recently been used to detect epistasis in genomic data. This paper shows that RA offers a classification of types of epistasis at three levels of resolution (variable-based models without loops, variable-based models with loops...

s-Sessions CNIO_Workshop on SNPs_INT:CNIO_SYMP_MolecularMarkers_INT 22/11/06 19:28 Página 13

To characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) project to evaluate typical filters and databases. We find significant correlations between estimated African ancestry proportions and the number of variants per individual in al...

For genome-wide association data analysis, two genes in any pathway, two SNPs in the two linked gene regions respectively or in the two linked exons respectively within one gene are often correlated with each other. We therefore proposed the concept of gene-gene co-association, which refers to the effects not only due to the traditional interaction under nearly independent condition but the cor...

glaucoma is a major cause of blindness worldwide. a single nucleotide polymorphism of the mthfr gene (c677t) has been associated with susceptibility to this disease, although this is controversial in the last decade. in this study, the possible association between the mthfr c677t polymorphism and the risk of developing primary open angle (poag) and pseudoexfoliation glaucoma (pexg) was investig...