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Updated: Jul 23, 2025

Spotting Cheetahs: Identifying Individuals by Their Footprints
Published on: May 1, 2016
Studying the genetics of participation using footprints left on the ascertained genotypes
Stefania Benonisdottir1, Augustine Kong2,3
1Big Data Institute, Li Ka Shing Centre for Health Information Discovery, University of Oxford, Oxford, UK. stefania.benonisdottir@gmail.com.
Abstract:
The trait of participating in a genetic study probably has a genetic component. Identifying this component is difficult as we cannot compare genetic information of participants with nonparticipants directly, the latter being unavailable. Here, we show that alleles that are more common in participants than nonparticipants would be further enriched in genetic segments shared by two related participants. Genome-wide analysis was performed by comparing allele frequencies in shared and not-shared genetic segments of first-degree relative pairs of the UK Biobank. In nonoverlapping samples, a polygenic score constructed from that analysis is significantly associated with educational attainment, body mass index and being invited to a dietary study. The estimated correlation between the genetic components underlying participation in UK Biobank and educational attainment is estimated to be 36.6%-substantial but far from total. Taking participation behaviour into account would improve the analyses of the study data, including those of health traits.
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