Dataset Information

Spinning convincing stories for both true and false association signals.

ABSTRACT: When interpreting genome-wide association peaks, it is common to annotate each peak by searching for genes with plausible relationships to the trait. However, "all that glitters is not gold"-one might interpret apparent patterns in the data as plausible even when the peak is a false positive. Accordingly, we sought to see how human annotators interpreted association results containing a mixture of peaks from both the original trait and a genetically uncorrelated "synthetic" trait. Two of us prepared a mix of original and synthetic peaks of three significance categories from five different scans along with relevant literature search results and then we all annotated these regions. Three annotators also scored the strength of evidence connecting each peak to the scanned trait and the likelihood of further studying that region. While annotators found original peaks to have stronger evidence (p Bonferroni ?=?0.017) and higher likelihood of further study ( p Bonferroni ?=?0.006) than synthetic peaks, annotators often made convincing connections between the synthetic peaks and the original trait, finding these connections 55% of the time. These results show that it is not difficult for annotators to make convincing connections between synthetic association signals and genes found in those regions.

SUBMITTER: Biedrzycki RJ

PROVIDER: S-EPMC6590226 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Spinning convincing stories for both true and false association signals.

Biedrzycki Richard J RJ Sier Ashley E AE Liu Dongjing D Dreikorn Erika N EN Weeks Daniel E DE

Genetic epidemiology 20190118 4

When interpreting genome-wide association peaks, it is common to annotate each peak by searching for genes with plausible relationships to the trait. However, "all that glitters is not gold"-one might interpret apparent patterns in the data as plausible even when the peak is a false positive. Accordingly, we sought to see how human annotators interpreted association results containing a mixture of peaks from both the original trait and a genetically uncorrelated "synthetic" trait. Two of us prep ...[more]

PMID: 30657194

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Project description:Brucella pinnipedialis was first isolated from true seals in 1994 and from eared seals in 2008. Although few pathological findings have been associated with infection in true seals, reproductive pathology including abortions, and the isolation of the zoonotic strain type 27 have been documented in eared seals. In this study, a Brucella enzyme-linked immunosorbent assay (ELISA) and the Rose Bengal test (RBT) were initially compared for 206 serum samples and a discrepancy between the tests was found. Following removal of lipids from the serum samples, ELISA results were unaltered while the agreement between the tests was improved, indicating that serum lipids affected the initial RBT outcome. For the remaining screening, we used ELISA to investigate the presence of Brucella antibodies in sera of 231 eared and 1,412 true seals from Alaskan waters sampled between 1975 and 2011. In eared seals, Brucella antibodies were found in two Steller sea lions (Eumetopias jubatus) (2%) and none of the 107 Northern fur seals (Callorhinus ursinus). The low seroprevalence in eared seals indicate a low level of exposure or lack of susceptibility to infection. Alternatively, mortality due to the Brucella infection may remove seropositive animals from the population. Brucella antibodies were detected in all true seal species investigated; harbor seals (Phoca vitulina) (25%), spotted seals (Phoca largha) (19%), ribbon seals (Histriophoca fasciata) (16%), and ringed seals (Pusa hispida hispida) (14%). There was a low seroprevalence among pups, a higher seroprevalence among juveniles, and a subsequent decreasing probability of seropositivity with age in harbor seals. Similar patterns were present for the other true seal species; however, solid conclusions could not be made due to sample size. This pattern is in accordance with previous reports on B. pinnipedialis infections in true seals and may suggest environmental exposure to B. pinnipedialis at the juvenile stage, with a following clearance of infection. Furthermore, analyses by region showed minor differences in the probability of being seropositive for harbor seals from different regions regardless of the local seal population trend, signifying that the Brucella infection may not cause significant mortality in these populations. In conclusion, the Brucella infection pattern is very different for eared and true seals.

Dataset Information

Spinning convincing stories for both true and false association signals.

Publications

Spinning convincing stories for both true and false association signals.

Similar Datasets

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