Statistical algorithms for the analysis of deleterious genetic mutations

We present algorithms for model selection and parameter estimation concerning deleterious genetic mutations. Three models are considered: single gene mutation, double cross-effect mutations or no genetic cause. Each of these models include unknown parameters that must be estimated simultaneously. Available data are phenotypes along family pedigrees but no genotypic data. We compare classical fit methods based on statistical summaries of the data and a neural network approach. We show the performance of our algorithms on simulated datasets of reasonable size. We also consider real data concerning breast/ovarian cancer.

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Publication Details

Journal
Biosystems
Published
2025-05-01
DOI
https://doi.org/10.1016/j.biosystems.2025.105463
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

Statistical algorithms for the analysis of deleterious genetic mutations

Andrzej Stós, Laurent Serlet, Fabrice Kwiatkowski
Biosystems
Genomic variations and chromosomal abnormalities
article

Statistical algorithms for the analysis of deleterious genetic mutations

Andrzej Stós, Laurent Serlet, Fabrice Kwiatkowski
article en

Abstract

We present algorithms for model selection and parameter estimation concerning deleterious genetic mutations. Three models are considered: single gene mutation, double cross-effect mutations or no genetic cause. Each of these models include unknown parameters that must be estimated simultaneously. Available data are phenotypes along family pedigrees but no genotypic data. We compare classical fit methods based on statistical summaries of the data and a neural network approach. We show the performance of our algorithms on simulated datasets of reasonable size. We also consider real data concerning breast/ovarian cancer.

BiosystemsVol. 252
Centre National de la Recherche Scientifique (FR), Université Clermont Auvergne (FR)
Openalex Percentile: Top 97%
Genomic variations and chromosomal abnormalities
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