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Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes
Deep learning is impacting many fields of data science with often spectacular results. However, its application to whole-genome predictions in plant and animal science or in human biology has been rather limited, with mostly underwhelming results. While most works focus on exploring alternative netw...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674857/ https://www.ncbi.nlm.nih.gov/pubmed/36400808 http://dx.doi.org/10.1038/s41598-022-24405-0 |
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author | Nazzicari, Nelson Biscarini, Filippo |
author_facet | Nazzicari, Nelson Biscarini, Filippo |
author_sort | Nazzicari, Nelson |
collection | PubMed |
description | Deep learning is impacting many fields of data science with often spectacular results. However, its application to whole-genome predictions in plant and animal science or in human biology has been rather limited, with mostly underwhelming results. While most works focus on exploring alternative network architectures, in this study we propose an innovative representation of marker genotype data and tested it against the GBLUP (Genomic BLUP) benchmark with linear and nonlinear phenotypes. From publicly available cattle SNP genotype data, different types of genomic kinship matrices are stacked together in a 3D pile from where 2D grayscale slices are extracted and fed to a deep convolutional neural network (DNN). We simulated nine phenotype scenarios with combinations of additivity, dominance and epistasis, and compared the DNN to GBLUP-A (computed using only the additive kinship matrix) and GBLUP-optim (additive, dominance, and epistasis kinship matrices, as needed). Results varied depending on the accuracy metric employed, with DNN performing better in terms of root mean squared error (1–12% lower than GBLUP-A; 1–9% lower than GBLUP-optim) but worse in terms of Pearson’s correlation (0.505 for DNN compared to 0.672 and 0.669 of GBLUP-A and GBLUP-optim for fully additive case; 0.274 for DNN, 0.279 for GBLUP-A, and 0.477 for GBLUP-optim for fully dominant case). The proposed approach offers a basis to explore further the application of DNN to tabular data in whole-genome predictions. |
format | Online Article Text |
id | pubmed-9674857 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-96748572022-11-20 Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes Nazzicari, Nelson Biscarini, Filippo Sci Rep Article Deep learning is impacting many fields of data science with often spectacular results. However, its application to whole-genome predictions in plant and animal science or in human biology has been rather limited, with mostly underwhelming results. While most works focus on exploring alternative network architectures, in this study we propose an innovative representation of marker genotype data and tested it against the GBLUP (Genomic BLUP) benchmark with linear and nonlinear phenotypes. From publicly available cattle SNP genotype data, different types of genomic kinship matrices are stacked together in a 3D pile from where 2D grayscale slices are extracted and fed to a deep convolutional neural network (DNN). We simulated nine phenotype scenarios with combinations of additivity, dominance and epistasis, and compared the DNN to GBLUP-A (computed using only the additive kinship matrix) and GBLUP-optim (additive, dominance, and epistasis kinship matrices, as needed). Results varied depending on the accuracy metric employed, with DNN performing better in terms of root mean squared error (1–12% lower than GBLUP-A; 1–9% lower than GBLUP-optim) but worse in terms of Pearson’s correlation (0.505 for DNN compared to 0.672 and 0.669 of GBLUP-A and GBLUP-optim for fully additive case; 0.274 for DNN, 0.279 for GBLUP-A, and 0.477 for GBLUP-optim for fully dominant case). The proposed approach offers a basis to explore further the application of DNN to tabular data in whole-genome predictions. Nature Publishing Group UK 2022-11-18 /pmc/articles/PMC9674857/ /pubmed/36400808 http://dx.doi.org/10.1038/s41598-022-24405-0 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Nazzicari, Nelson Biscarini, Filippo Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes |
title | Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes |
title_full | Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes |
title_fullStr | Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes |
title_full_unstemmed | Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes |
title_short | Stacked kinship CNN vs. GBLUP for genomic predictions of additive and complex continuous phenotypes |
title_sort | stacked kinship cnn vs. gblup for genomic predictions of additive and complex continuous phenotypes |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674857/ https://www.ncbi.nlm.nih.gov/pubmed/36400808 http://dx.doi.org/10.1038/s41598-022-24405-0 |
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