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Estimation of dynamic SNP-heritability with Bayesian Gaussian process models

MOTIVATION: Improved DNA technology has made it practical to estimate single-nucleotide polymorphism (SNP)-heritability among distantly related individuals with unknown relationships. For growth- and development-related traits, it is meaningful to base SNP-heritability estimation on longitudinal dat...

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Autores principales: Arjas, Arttu, Hauptmann, Andreas, Sillanpää, Mikko J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672693/
https://www.ncbi.nlm.nih.gov/pubmed/32186692
http://dx.doi.org/10.1093/bioinformatics/btaa199
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author Arjas, Arttu
Hauptmann, Andreas
Sillanpää, Mikko J
author_facet Arjas, Arttu
Hauptmann, Andreas
Sillanpää, Mikko J
author_sort Arjas, Arttu
collection PubMed
description MOTIVATION: Improved DNA technology has made it practical to estimate single-nucleotide polymorphism (SNP)-heritability among distantly related individuals with unknown relationships. For growth- and development-related traits, it is meaningful to base SNP-heritability estimation on longitudinal data due to the time-dependency of the process. However, only few statistical methods have been developed so far for estimating dynamic SNP-heritability and quantifying its full uncertainty. RESULTS: We introduce a completely tuning-free Bayesian Gaussian process (GP)-based approach for estimating dynamic variance components and heritability as their function. For parameter estimation, we use a modern Markov Chain Monte Carlo method which allows full uncertainty quantification. Several datasets are analysed and our results clearly illustrate that the 95% credible intervals of the proposed joint estimation method (which ‘borrows strength’ from adjacent time points) are significantly narrower than of a two-stage baseline method that first estimates the variance components at each time point independently and then performs smoothing. We compare the method with a random regression model using MTG2 and BLUPF90 software and quantitative measures indicate superior performance of our method. Results are presented for simulated and real data with up to 1000 time points. Finally, we demonstrate scalability of the proposed method for simulated data with tens of thousands of individuals. AVAILABILITY AND IMPLEMENTATION: The C++ implementation dynBGP and simulated data are available in GitHub: https://github.com/aarjas/dynBGP. The programmes can be run in R. Real datasets are available in QTL archive: https://phenome.jax.org/centers/QTLA. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-76726932020-11-24 Estimation of dynamic SNP-heritability with Bayesian Gaussian process models Arjas, Arttu Hauptmann, Andreas Sillanpää, Mikko J Bioinformatics Original Papers MOTIVATION: Improved DNA technology has made it practical to estimate single-nucleotide polymorphism (SNP)-heritability among distantly related individuals with unknown relationships. For growth- and development-related traits, it is meaningful to base SNP-heritability estimation on longitudinal data due to the time-dependency of the process. However, only few statistical methods have been developed so far for estimating dynamic SNP-heritability and quantifying its full uncertainty. RESULTS: We introduce a completely tuning-free Bayesian Gaussian process (GP)-based approach for estimating dynamic variance components and heritability as their function. For parameter estimation, we use a modern Markov Chain Monte Carlo method which allows full uncertainty quantification. Several datasets are analysed and our results clearly illustrate that the 95% credible intervals of the proposed joint estimation method (which ‘borrows strength’ from adjacent time points) are significantly narrower than of a two-stage baseline method that first estimates the variance components at each time point independently and then performs smoothing. We compare the method with a random regression model using MTG2 and BLUPF90 software and quantitative measures indicate superior performance of our method. Results are presented for simulated and real data with up to 1000 time points. Finally, we demonstrate scalability of the proposed method for simulated data with tens of thousands of individuals. AVAILABILITY AND IMPLEMENTATION: The C++ implementation dynBGP and simulated data are available in GitHub: https://github.com/aarjas/dynBGP. The programmes can be run in R. Real datasets are available in QTL archive: https://phenome.jax.org/centers/QTLA. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2020-06-15 2020-03-18 /pmc/articles/PMC7672693/ /pubmed/32186692 http://dx.doi.org/10.1093/bioinformatics/btaa199 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Papers
Arjas, Arttu
Hauptmann, Andreas
Sillanpää, Mikko J
Estimation of dynamic SNP-heritability with Bayesian Gaussian process models
title Estimation of dynamic SNP-heritability with Bayesian Gaussian process models
title_full Estimation of dynamic SNP-heritability with Bayesian Gaussian process models
title_fullStr Estimation of dynamic SNP-heritability with Bayesian Gaussian process models
title_full_unstemmed Estimation of dynamic SNP-heritability with Bayesian Gaussian process models
title_short Estimation of dynamic SNP-heritability with Bayesian Gaussian process models
title_sort estimation of dynamic snp-heritability with bayesian gaussian process models
topic Original Papers
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672693/
https://www.ncbi.nlm.nih.gov/pubmed/32186692
http://dx.doi.org/10.1093/bioinformatics/btaa199
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