Quantitative Analysis of Single Nucleotide Polymorphisms within Copy Number Variation

Background Single nucleotide polymorphisms (SNPs) have been used extensively in genetics and epidemiology studies. Traditionally, SNPs that did not pass the Hardy-Weinberg equilibrium (HWE) test were excluded from these analyses. Many investigators have addressed possible causes for departure from HWE, including genotyping errors, population admixture and segmental duplication. Recent large-scale surveys have revealed abundant structural variations in the human genome, including copy number variations (CNVs). This suggests that a significant number of SNPs must be within these regions, which may cause deviation from HWE. Results We performed a Bayesian analysis on the potential effect of copy number variation, segmental duplication and genotyping errors on the behavior of SNPs. Our results suggest that copy number variation is a major factor of HWE violation for SNPs with a small minor allele frequency, when the sample size is large and the genotyping error rate is 0~1%. Conclusions Our study provides the posterior probability that a SNP falls in a CNV or a segmental duplication, given the observed allele frequency of the SNP, sample size and the significance level of HWE testing.

Performance Analysis of a WWW Server

This paper addresses the problem of analyzing performance of WWW servers. The web has experienced a phenomenal growth and has become the most popular Internet application. As a consequence of its large popularity, the Internet has suffered from various performance problems, such as network congestion and overloaded servers. These days, it is not uncommon to find servers refusing connections because they are overloaded. Performance has always been a key issue in the design and operation of on-line systems. With regard to Internet, performance is also critical, because users want fast and easy access to all objects (i.e., documents, pictures, audio, and video) available on the net. Thus, it is important to understand WWW performance issues. This paper focuses on the performance analysis of a Web server. Using a synthetic benchmark (WebStone), we analyze three different Web server software running on top of a Windows NT platform and performing some typical WWW tasks.