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PEPS: Polygenic Epistatic Phenotype Simulation

Abstract

Genetic data is limited and generating new datasets is often an expensive, time-consuming process, involving countless moving parts to genotype and phenotype individuals. While sharing data is beneficial for quality control and software development, privacy and security are of utmost importance. Generating synthetic data is a practical solution to mitigate the cost, time and sensitivities that hamper developers and researchers in producing and validating novel biotechnological solutions to data intensive problems. Existing methods focus on mutation frequencies at specific loci while ignoring epistatic interactions. Alternatively, programs that do consider epistasis are limited to two-way interactions or apply genomic constraints that make synthetic data generation arduous or computationally intensive. To solve this, we developed Polygenic Epistatic Phenotype Simulator (PEPS). Our tool is a probabilistic model that can generate synthetic phenotypes with a controllable level of complexity.

Type Journal
ISBN 1879-8365 (Electronic) 0926-9630 (Linking)
Authors Reguant, R.; O'Brien, M. J.; Bayat, A.; Hosking, B.; Jain, Y.; Twine, N. A.; Bauer, D. C.
Publisher Name Stud Health Technol Inform
Published Date 2024-01-25
Published Volume 310
Published Pages 810-814
Status Published in-print
DOI 10.3233/SHTI231077
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/38269921