2021
DOI: 10.1093/biomet/asab012
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More for less: predicting and maximizing genomic variant discovery via Bayesian nonparametrics

Abstract: While the cost of sequencing genomes has decreased dramatically in recent years, this expense often remains non-trivial. Under a fixed budget, scientists face a natural trade-off between quantity and quality: spending resources to sequence a greater number of genomes or spending resources to sequence genomes with increased accuracy. Our goal is to find the optimal allocation of resources between quantity and quality. Optimizing resource allocation promises to reveal as many new variations in the genome as poss… Show more

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Cited by 9 publications
(26 citation statements)
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“…The use of MAP estimates for hyperparameters is becoming increasingly popular in Bayesian nonparametrics, see e.g. Masoero et al (2019) and Di Benedetto et al (2017), where the number of hyperparameters is usually small and wellinformed by the data. This contrasts with flexible Bayesian nonparametric regression approaches which model the logarithm of the survival time using a dependent Dirichlet process.…”
Section: Discussionmentioning
confidence: 99%
“…The use of MAP estimates for hyperparameters is becoming increasingly popular in Bayesian nonparametrics, see e.g. Masoero et al (2019) and Di Benedetto et al (2017), where the number of hyperparameters is usually small and wellinformed by the data. This contrasts with flexible Bayesian nonparametric regression approaches which model the logarithm of the survival time using a dependent Dirichlet process.…”
Section: Discussionmentioning
confidence: 99%
“…where c > 0, σ ∈ (0, 1), and α > 0 (James [28], Masoero et al [30]). Now, we describe the predictive distribution for an arbitrary CRM μ.…”
Section: Priors Based On Crmsmentioning
confidence: 99%
“…BNP estimation of U relies on the specification of a prior distribution on the unknown feature proportions p i 's, and completely random measures (CRM) [Kingman, 1967] provide a natural framework to define such a prior [James, 2017, Broderick et al, 2018, the most common being the beta process and the stable-Beta process priors Gorur, 2009, Griffiths andGhahramani, 2011]. In a recent work, Masoero et al [2021] applied the stable-Beta process to develop the first BNP approach to the unseen-features problem, bringing out the upside and the downside of the use of CRMs as prior models: i) the downside lies in the use of the sampling information, that is the posterior distribution of U , given Z 1:N , depends on Z 1:N only through the sample size N ; ii) the upside lies in the analytical tractability and the interpretability, that is the posterior distribution of U , given Z 1:N , is a Poisson distribution whose parameter depends on N and the prior's parameters. While analytically appealing, CRMs lead to a questionable oversimplification of the BNP approach, in the sense that the posterior distribution of U does not depend on the sampling information except through the sample size.…”
Section: Our Contributionsmentioning
confidence: 99%
“…Our empirical analysis shows that the proposed methodology outperforms parametric and nonparametric competitors, both classical (frequentist) and Bayesian, in terms of estimation accuracy of U . Moreover, the proposed methodology also provides improved coverage for the estimation with respect to the recent BNP approach of Masoero et al [2021].…”
Section: Our Contributionsmentioning
confidence: 99%
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