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 likelih

SUBMITTER: Biedrzycki RJ 

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

REPOSITORIES: biostudies-literature