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Genotype fingerprints enable fast and private comparison of genetic testing results for research and direct-to-consumer applications

Max Robinson, Gustavo Glusman
doi: https://doi.org/10.1101/208025
Max Robinson
Institute for Systems Biology, 401 Terry Ave N, Seattle, WA 98109, USA
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Gustavo Glusman
Institute for Systems Biology, 401 Terry Ave N, Seattle, WA 98109, USA
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  • For correspondence: Gustavo@SystemsBiology.org
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Abstract

As genetic testing expands out of the research laboratory into medical practice as well as the direct-to-consumer market, the efficiency with which the resulting genotype data can be compared between individuals is of increasing importance.

We present a method for summarizing personal genotypes, yielding ’genotype fingerprints’ that can be derived from any single nucleotide polymorphism (SNP)-based assay and readily compared to estimate relatedness. The resulting fingerprints remain comparable as chip designs evolve to higher marker densities. We demonstrate that they support applications including distinguishing genotypes of closely related individuals by relationship type, distinguishing closely related individuals from individuals from the same background population, identification of individuals in known background populations, and de novo identification of subpopulations within a large cohort in a high-throughput manner.

An important feature of genotype fingerprints is that, while fingerprints do not preserve anonymity, they summarize individual marker data in a way that prevents phenotype prediction. Genotype fingerprints are therefore well-suited to public sharing for ancestry determination purposes, without revealing personal health risk status.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted October 27, 2017.
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Genotype fingerprints enable fast and private comparison of genetic testing results for research and direct-to-consumer applications
Max Robinson, Gustavo Glusman
bioRxiv 208025; doi: https://doi.org/10.1101/208025
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Genotype fingerprints enable fast and private comparison of genetic testing results for research and direct-to-consumer applications
Max Robinson, Gustavo Glusman
bioRxiv 208025; doi: https://doi.org/10.1101/208025

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