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A resampling-based approach to share reference panels

Authors: Théo Cavinato; Simone Rubinacci; Anna-Sapfo Malaspinas; Olivier Delaneau;

A resampling-based approach to share reference panels

Abstract

AbstractFor many genome-wide association studies, imputing genotypes from a haplotype reference panel is a necessary step. Over the past 15 years, reference panels have become larger and more diverse, leading to improvements in imputation accuracy. However, the latest generation of reference panels is subject to restrictions on data sharing due to concerns about privacy, limiting their usefulness for genotype imputation. In this context, we propose RESHAPE, a method that employs a recombination Poisson process on a reference panel to simulate the genomes of hypothetical descendants after multiple generations. This data transformation helps to protect against re-identification threats and preserves important data attributes, such as linkage disequilibrium (LD) patterns and, to some degree, Identity-By-Descent (IBD) sharing, allowing for genotype imputation. Our experiments on gold standard datasets show that simulated descendants up to eight generations can serve as reference panels without significantly reducing genotype imputation accuracy. We suggest that this specific type of data anonymization could be used to generate synthetic reference panels available under less restrictive data sharing policies.

Country
Switzerland
Related Organizations
Keywords

Genotype, Models, Genetic, Information Dissemination, Genome, Human, Polymorphism, Single Nucleotide, Article, Linkage Disequilibrium, Humans; Genome-Wide Association Study/methods; Genotype; Linkage Disequilibrium; Haplotypes/genetics; Polymorphism, Single Nucleotide/genetics; Information Dissemination/methods; Computer Simulation; Models, Genetic; Algorithms; Genome, Human/genetics; Poisson Distribution, Haplotypes, Humans, Computer Simulation, Poisson Distribution, Algorithms, Genome-Wide Association Study

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    popularity
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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
6
Top 10%
Average
Top 10%
Green
hybrid