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.

An Institutional Approach to Donor Control: From Dyadic Ties to a Field‐Level Analysis

Literature on the nonprofit sector focuses on charities and their interactions with clients or governmental agencies; donors are studied less often. Studies on philanthropy do examine donors but tend to focus on microlevel factors to explain their behavior. This study, in contrast, draws on institutional theory to show that macrolevel factors affect donor behavior. It also extends the institutional framework by examining the field‐level configurations in which donors and fundraisers are embedded. Employing the case of workplace charity, this new model highlights how the composition of the organizational field structures fundraisers and donors alike, shaping fundraisers’ strategies of solicitation and, therefore, the extent of donor control.