Pathway analysis, broadly defined as a group of methods incorporating a priori biological information from public databases, has emerged as a promising approach for analyzing high-dimensional genomic data. As part of Genetic Analysis Workshop 18, seven research groups applied pathway analysis techniques to whole-genome sequence data from the San Antonio Family Study. Overall, the groups found t...

Family studies are often used in genetic research to explore associations between genetic markers and various phenotypes. A commonly used design oversamples families enriched with the disease under study for efficient data collection and estimation. For instance, in a multiple cases family study, families are selected based on the number of affected relatives. In such cases, valid inference for...

PURPOSE Twin studies have demonstrated a high heritability for refractive error of up to 90%, but some family studies have suggested up to one-third of population variance is attributable to the effects of shared family environment. This large twin study aimed to explore the role of shared environment in refractive error. METHODS Refractive error was measured using autorefraction in 4602 subj...

Although conceptually the distinction between unipolar and bipolar disorder was made in the 19th century by French and German physicians, it was not until the family studies of Angst (1966) and Perris (1966) that the first evidence that these are two different conditions was provided. The distinction came primarily from family studies that found that patients with bipolar disorder had a higher ...

Laboratory-confirmed cases of subclinical infection with avian influenza A(H5N1) virus in humans are rare, and the true number of these cases is unknown. We describe the identification of a laboratory-confirmed subclinical case in a woman during an influenza A(H5N1) contact investigation in northern Vietnam.

Despite evidence from family studies that there is a strong genetic influence upon exceptional longevity, relatively few genetic variants have been associated with this trait. One reason could be that many genes individually have such weak effects that they cannot meet standard thresholds of genome wide significance, but as a group in specific combinations of genetic variations, they can have a...

Seven kinds of hypervariable DNA probes, which recognize hypervariable loci, were applied for individual identification of human bloodstains. Allelic frequencies and their confidence intervals among unrelated Japanese individuals were previously reported from our laboratory, and codominant segregation of the polymorphism was confirmed in family studies. One-month-old bloodstains from ten indivi...

OBJECTIVE To determine the yield and determinants of retrospective TB contact investigation in selected zones in Ethiopia. MATERIALS AND METHODS This was a community-based cross-sectional study conducted during June-October 2014.Trained lay providers performed symptom screening for close contacts of index cases with all types of TB registered for anti-TB treatment within the last three years....

This paper distills and extends recent research on the economics of human development and social mobility. It summarizes the evidence from diverse literatures on the importance of early life conditions in shaping multiple life skills and the evidence on critical and sensitive investment periods for shaping different skills. It presents economic models that rationalize the evidence and unify the...

We look at fitting regression models using data from stratified cluster samples when the strata may depend in some way on the observed responses within clusters. One important subclass of examples is that of family studies in genetic epidemiology, where the probability of selecting a family into the study depends on the incidence of disease within the family. We develop the survey-weighted esti...