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PEPS: Polygenic Epistatic Phenotype Simulation.
Reguant, Roc; O'Brien, Mitchell J; Bayat, Arash; Hosking, Brendan; Jain, Yatish; Twine, Natalie A; Bauer, Denis C.
Afiliación
  • Reguant R; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, New South Wales, Sydney, Australia.
  • O'Brien MJ; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, New South Wales, Sydney, Australia.
  • Bayat A; Garvan Institute of Medical Research, New South Wales, Sydney, Australia.
  • Hosking B; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, New South Wales, Sydney, Australia.
  • Jain Y; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, New South Wales, Sydney, Australia.
  • Twine NA; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, New South Wales, Sydney, Australia.
  • Bauer DC; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, New South Wales, Sydney, Australia.
Stud Health Technol Inform ; 310: 810-814, 2024 Jan 25.
Article en En | MEDLINE | ID: mdl-38269921
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biotecnología / Modelos Estadísticos Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Stud Health Technol Inform Asunto de la revista: INFORMATICA MEDICA / PESQUISA EM SERVICOS DE SAUDE Año: 2024 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biotecnología / Modelos Estadísticos Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Stud Health Technol Inform Asunto de la revista: INFORMATICA MEDICA / PESQUISA EM SERVICOS DE SAUDE Año: 2024 Tipo del documento: Article País de afiliación: Australia