Searcharxiv⌕ Search

arXiv subjects

Stefano Favaro

Publications and source records attributed to Stefano Favaro.

At least 73 records · Page 4Linked to original sources

More for less: Predicting and maximizing genetic variant discovery via Bayesian nonparametrics

While the cost of sequencing genomes has decreased dramatically in recent years, this expense often remains non-trivial. Under a fixed budget, then, scientists face a natural trade-off between quantity and quality; they can spend resources to sequence a greater number of genomes (quantity) or spend resources to sequence genomes with increased accuracy (quality). 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 possible, and thus as many new scientific insights as possible. In this paper, we consider the common setting where scientists have already conducted a pilot study to reveal variants in a genome and are contemplating a follow-up study. We introduce a Bayesian nonparametric methodology to predict the number of new variants in the follow-up study based on the pilot study. When experimental conditions are kept constant between the pilot and follow-up, we demonstrate on real data from the gnomAD project that our prediction is more accurate than three recent proposals, and competitive with a more classic proposal. Unlike existing methods, though, our method allows practitioners to change experimental conditions between the pilot and the follow-up. We demonstrate how this distinction allows our method to be used for (i) more realistic predictions and (ii) optimal allocation of a fixed budget between quality and quantity.

stat.ME↗

A Bayesian nonparametric approach to count-min sketch under power-law data streams

The count-min sketch (CMS) is a randomized data structure that provides estimates of tokens' frequencies in a large data stream using a compressed representation of the data by random hashing. In this paper, we rely on a recent Bayesian nonparametric (BNP) view on the CMS to develop a novel learning-augmented CMS under power-law data streams. We assume that tokens in the stream are drawn from an unknown discrete distribution, which is endowed with a normalized inverse Gaussian process (NIGP) prior. Then, using distributional properties of the NIGP, we compute the posterior distribution of a token's frequency in the stream, given the hashed data, and in turn corresponding BNP estimates. Applications to synthetic and real data show that our approach achieves a remarkable performance in the estimation of low-frequency tokens. This is known to be a desirable feature in the context of natural language processing, where it is indeed common in the context of the power-law behaviour of the data.

stat.ML↗

A Good-Turing estimator for feature allocation models

Feature allocation models generalize species sampling models by allowing every observation to belong to more than one species, now called features. Under the popular Bernoulli product model for feature allocation, given $n$ samples, we study the problem of estimating the missing mass $M_{n}$, namely the expected number hitherto unseen features that would be observed if one additional individual was sampled. This is motivated by numerous applied problems where the sampling procedure is expensive, in terms of time and/or financial resources allocated, and further samples can be only motivated by the possibility of recording new unobserved features. We introduce a simple, robust and theoretically sound nonparametric estimator $\hat{M}_{n}$ of $M_{n}$. $\hat{M}_{n}$ turns out to have the same analytic form of the popular Good-Turing estimator of the missing mass in species sampling models, with the difference that the two estimators have different ranges. We show that $\hat{M}_{n}$ admits a natural interpretation both as a jackknife estimator and as a nonparametric empirical Bayes estimator, we give provable guarantees for the performance of $\hat{M}_{n}$ in terms of minimax rate optimality, and we provide with an interesting connection between $\hat{M}_{n}$ and the Good-Turing estimator for species sampling. Finally, we derive non-asymptotic confidence intervals for $\hat{M}_{n}$, which are easily computable and do not rely on any asymptotic approximation. Our approach is illustrated with synthetic data and SNP data from the ENCODE sequencing genome project.

math.ST↗

A Berry-Esseen theorem for Pitman's $α$-diversity

This paper is concerned with the study of the random variable $K_n$ denoting the number of distinct elements in a random sample $(X_1, \dots, X_n)$ of exchangeable random variables driven by the two parameter Poisson-Dirichlet distribution, $PD(α,θ)$. For $α\in(0,1)$, Theorem 3.8 in \cite{Pit(06)} shows that $\frac{K_n}{n^α}\stackrel{\text{a.s.}}{\longrightarrow} S_{α,θ}$ as $n\rightarrow+\infty$. Here, $S_{α,θ}$ is a random variable distributed according to the so-called scaled Mittag-Leffler distribution. Our main result states that $$ \sup_{x \geq 0} \Big| \ppsf\Big[\frac{K_n}{n^α} \leq x \Big] - \ppsf[S_{α,θ} \leq x] \Big| \leq \frac{C(α, θ)}{n^α} $$ holds with an explicit constant $C(α, θ)$. The key ingredients of the proof are a novel probabilistic representation of $K_n$ as compound distribution and new, refined versions of certain quantitative bounds for the Poisson approximation and the compound Poisson distribution.

math.PR↗

Nonparametric Bayesian multi-armed bandits for single cell experiment design

The problem of maximizing cell type discovery under budget constraints is a fundamental challenge for the collection and analysis of single-cell RNA-sequencing (scRNA-seq) data. In this paper, we introduce a simple, computationally efficient, and scalable Bayesian nonparametric sequential approach to optimize the budget allocation when designing a large scale experiment for the collection of scRNA-seq data for the purpose of, but not limited to, creating cell atlases. Our approach relies on the following tools: i) a hierarchical Pitman-Yor prior that recapitulates biological assumptions regarding cellular differentiation, and ii) a Thompson sampling multi-armed bandit strategy that balances exploitation and exploration to prioritize experiments across a sequence of trials. Posterior inference is performed by using a sequential Monte Carlo approach, which allows us to fully exploit the sequential nature of our species sampling problem. We empirically show that our approach outperforms state-of-the-art methods and achieves near-Oracle performance on simulated and scRNA-seq data alike. HPY-TS code is available at https://github.com/fedfer/HPYsinglecell.

stat.AP↗

De Finetti's theorem: rate of convergence in Kolmogorov distance

This paper provides a quantitative version of de Finetti law of large numbers. Given an infinite sequence $\{X_n\}_{n \geq 1}$ of exchangeable Bernoulli variables, it is well-known that $\frac{1}{n} \sum_{i = 1}^n X_i \stackrel{a.s.}{\longrightarrow} Y$, for a suitable random variable $Y$ taking values in $[0,1]$. Here, we consider the rate of convergence in law of $\frac{1}{n} \sum_{i = 1}^n X_i$ towards $Y$, with respect to the Kolmogorov distance. After showing that any rate of the type of $1/n^α$ can be obtained for any $α\in (0,1]$, we find a sufficient condition on the probability distribution of $Y$ for the achievement of the optimal rate of convergence, that is $1/n$. Our main result improve on existing literature: in particular, with respect to \cite{MPS}, we study a stronger metric while, with respect to \cite{Mna}, we weaken the regularity hypothesis on the probability distribution of $Y$.

math.PR↗

Approximating predictive probabilities of Gibbs-type priors

Gibbs-type random probability measures, or Gibbs-type priors, are arguably the most "natural" generalization of the celebrated Dirichlet prior. Among them the two parameter Poisson-Dirichlet prior certainly stands out for the mathematical tractability and interpretability of its predictive probabilities, which made it the natural candidate in several applications. Given a sample of size $n$, in this paper we show that the predictive probabilities of any Gibbs-type prior admit a large $n$ approximation, with an error term vanishing as $o(1/n)$, which maintains the same desirable features as the predictive probabilities of the two parameter Poisson-Dirichlet prior.

stat.ME↗

Infinitely deep neural networks as diffusion processes

When the parameters are independently and identically distributed (initialized) neural networks exhibit undesirable properties that emerge as the number of layers increases, e.g. a vanishing dependency on the input and a concentration on restrictive families of functions including constant functions. We consider parameter distributions that shrink as the number of layers increases in order to recover well-behaved stochastic processes in the limit of infinite depth. This leads to set forth a link between infinitely deep residual networks and solutions to stochastic differential equations, i.e. diffusion processes. We show that these limiting processes do not suffer from the aforementioned issues and investigate their properties.

stat.ML↗

Stable behaviour of infinitely wide deep neural networks

We consider fully connected feed-forward deep neural networks (NNs) where weights and biases are independent and identically distributed as symmetric centered stable distributions. Then, we show that the infinite wide limit of the NN, under suitable scaling on the weights, is a stochastic process whose finite-dimensional distributions are multivariate stable distributions. The limiting process is referred to as the stable process, and it generalizes the class of Gaussian processes recently obtained as infinite wide limits of NNs (Matthews at al., 2018b). Parameters of the stable process can be computed via an explicit recursion over the layers of the network. Our result contributes to the theory of fully connected feed-forward deep NNs, and it paves the way to expand recent lines of research that rely on Gaussian infinite wide limits.

stat.ML↗

Upscaling human activity data: an ecological perspective

In recent years we have witnessed an explosion of data collected for different human dynamics, from email communication to social networks activities. Extract useful information from these huge data sets represents a major challenge. In the last decades, statistical regularities has been widely observed in human activities and various models have been proposed. Here we move from modeling to inference and propose a statistical framework capable to predict global features of human activities from local knowledge. We consider four data sets of human activities: email communication, Twitter posts, Wikipedia articles and Gutenberg books. From the statistics of local activities, such as sent emails per senders, post per hashtags and word occurrences collected in a small sample of the considered dataset, we infer global features, as the number of senders, hashtags and words at the global scale. Our estimates are robust and accurate with a small relative error. Moreover, we predict how abundance of a hashtag or of a word may change through scales. Thus, observing a small portion of tweets and the popularity of a given hashtag among them, we can estimate whether it will remain popular or not in the unseen part of the network. Our approach is grounded on statistical ecology as we discover inference of unseen human activity hallmarks can be mapped into the unseen species problem in biodiversity. Our findings may have applications to different areas, from resource management in emails to collective attention monitoring in Twitter and to language learning process in word databases.

physics.soc-ph↗

Bayesian nonparametric temporal dynamic clustering via autoregressive Dirichlet priors

In this paper we consider the problem of dynamic clustering, where cluster memberships may change over time and clusters may split and merge over time, thus creating new clusters and destroying existing ones. We propose a Bayesian nonparametric approach to dynamic clustering via mixture modeling. Our approach relies on a novel time-dependent nonparametric prior defined by combining: i) a copula-based transformation of a Gaussian autoregressive process; ii) the stick-breaking construction of the Dirichlet process. Posterior inference is performed through a particle Markov chain Monte Carlo algorithm which is simple, computationally efficient and scalable to massive datasets. Advantages of the proposed approach include flexibility in applications, ease of computations and interpretability. We present an application of our dynamic Bayesian nonparametric mixture model to the study the temporal dynamics of gender stereotypes in adjectives and occupations in the 20th and 21st centuries in the United States. Moreover, to highlight the flexibility of our model we present additional applications to time-dependent data with covariates and with spatial structure.

stat.ME↗

Bayesian Mixed Effects Models for Zero-inflated Compositions in Microbiome Data Analysis

Detecting associations between microbial compositions and sample characteristics is one of the most important tasks in microbiome studies. Most of the existing methods apply univariate models to single microbial species separately, with adjustments for multiple hypothesis testing. We propose a Bayesian analysis for a generalized mixed effects linear model tailored to this application. The marginal prior on each microbial composition is a Dirichlet Process, and dependence across compositions is induced through a linear combination of individual covariates, such as disease biomarkers or the subject's age, and latent factors. The latent factors capture residual variability and their dimensionality is learned from the data in a fully Bayesian procedure. The proposed model is tested in data analyses and simulation studies with zero-inflated compositions. In these settings, within each sample, a large proportion of counts per microbial species are equal to zero. In our Bayesian model a priori the probability of compositions with absent microbial species is strictly positive. We propose an efficient algorithm to sample from the posterior and visualizations of model parameters which reveal associations between covariates and microbial compositions. We evaluate the proposed method in simulation studies, and then analyze a microbiome dataset for infants with type 1 diabetes which contains a large proportion of zeros in the sample-specific microbial compositions.

stat.ME↗

Consistent estimation of the missing mass for feature models

Feature models are popular in machine learning and they have been recently used to solve many unsupervised learning problems. In these models every observation is endowed with a finite set of features, usually selected from an infinite collection $(F_{j})_{j\geq 1}$. Every observation can display feature $F_{j}$ with an unknown probability $p_{j}$. A statistical problem inherent to these models is how to estimate, given an initial sample, the conditional expected number of hitherto unseen features that will be displayed in a future observation. This problem is usually referred to as the missing mass problem. In this work we prove that, using a suitable multiplicative loss function and without imposing any assumptions on the parameters $p_{j}$, there does not exist any universally consistent estimator for the missing mass. In the second part of the paper, we focus on a special class of heavy-tailed probabilities $(p_{j})_{j\geq 1}$, which are common in many real applications, and we show that, within this restricted class of probabilities, the nonparametric estimator of the missing mass suggested by Ayed et al. (2017) is strongly consistent. As a byproduct result, we will derive concentration inequalities for the missing mass and the number of features observed with a specified frequency in a sample of size $n$.

math.ST↗

Optimal disclosure risk assessment

Protection against disclosure is a legal and ethical obligation for agencies releasing microdata files for public use. Consider a microdata sample of size $n$ from a finite population of size $\bar{n}=n+λn$, with $λ>0$, such that each record contains two disjoint types of information: identifying categorical information and sensitive information. Any decision about releasing data is supported by the estimation of measures of disclosure risk, which are functionals of the number of sample records with a unique combination of values of identifying variables. The most common measure is arguably the number $τ_{1}$ of sample unique records that are population uniques. In this paper, we first study nonparametric estimation of $τ_{1}$ under the Poisson abundance model for sample records. We introduce a class of linear estimators of $τ_{1}$ that are simple, computationally efficient and scalable to massive datasets, and we give uniform theoretical guarantees for them. In particular, we show that they provably estimate $τ_{1}$ all of the way up to the sampling fraction $(λ+1)^{-1}\propto (\log n)^{-1}$, with vanishing normalized mean-square error (NMSE) for large $n$. We then establish a lower bound for the minimax NMSE for the estimation of $τ_{1}$, which allows us to show that: i) $(λ+1)^{-1}\propto (\log n)^{-1}$ is the smallest possible sampling fraction; ii) estimators' NMSE is near optimal, in the sense of matching the minimax lower bound, for large $n$. This is the main result of our paper, and it provides a precise answer to an open question about the feasibility of nonparametric estimation of $τ_{1}$ under the Poisson abundance model and for a sampling fraction $(λ+1)^{-1}<1/2$.

math.ST↗

A Wilks' theorem for grouped data

Consider $n$ independent measurements, with the additional information of the times at which measurements are performed. This paper deals with testing statistical hypotheses when $n$ is large and only a small amount of observations concentrated in short time intervals are relevant to the study. We define a testing procedure in terms of multiple likelihood ratio (LR) statistics obtained by splitting the observations into groups, and in accordance with the following principles: P1) each LR statistic is formed by gathering the data included in $G$ consecutive vectors of observations, where $G$ is a suitable time window defined a priori with respect to an arbitrary choice of the `origin of time'; P2) the null statistical hypothesis is rejected only if at least $k$ LR statistics are sufficiently small, for a suitable choice of $k$. We show that the application of the classical Wilks' theorem may be affected by the arbitrary choice of the "origin of time", in connection with P1). We then introduce a Wilks' theorem for grouped data which leads to a testing procedure that overcomes the problem of the arbitrary choice of the `origin of time', while fulfilling P1) and P2). Such a procedure is more powerful than the corresponding procedure based on Wilks' theorem.

stat.ME↗

On consistent estimation of the missing mass

Given $n$ samples from a population of individuals belonging to different types with unknown proportions, how do we estimate the probability of discovering a new type at the $(n+1)$-th draw? This is a classical problem in statistics, commonly referred to as the missing mass estimation problem. Recent results by Ohannessian and Dahleh \citet{Oha12} and Mossel and Ohannessian \citet{Mos15} showed: i) the impossibility of estimating (learning) the missing mass without imposing further structural assumptions on the type proportions; ii) the consistency of the Good-Turing estimator for the missing mass under the assumption that the tail of the type proportions decays to zero as a regularly varying function with parameter $α\in(0,1)$. In this paper we rely on tools from Bayesian nonparametrics to provide an alternative, and simpler, proof of the impossibility of a distribution-free estimation of the missing mass. Up to our knowledge, the use of Bayesian ideas to study large sample asymptotics for the missing mass is new, and it could be of independent interest. Still relying on Bayesian nonparametric tools, we then show that under regularly varying type proportions the convergence rate of the Good-Turing estimator is the best rate that any estimator can achieve, up to a slowly varying function, and that minimax rate must be at least $n^{-α/2}$. We conclude with a discussion of our results, and by conjecturing that the Good-Turing estimator is an rate optimal minimax estimator under regularly varying type proportions.

math.ST↗

Bayesian nonparametric analysis of Kingman's coalescent

Kingman's coalescent is one of the most popular models in population genetics. It describes the genealogy of a population whose genetic composition evolves in time according to the Wright-Fisher model, or suitable approximations of it belonging to the broad class of Fleming-Viot processes. Ancestral inference under Kingman's coalescent has had much attention in the literature, both in practical data analysis, and from a theoretical and methodological point of view. Given a sample of individuals taken from the population at time $t>0$, most contributions have aimed at making frequentist or Bayesian parametric inference on quantities related to the genealogy of the sample. In this paper we propose a Bayesian nonparametric predictive approach to ancestral inference. That is, under the prior assumption that the composition of the population evolves in time according to a neutral Fleming-Viot process, and given the information contained in an initial sample of $m$ individuals taken from the population at time $t>0$, we estimate quantities related to the genealogy of an additional unobservable sample of size $m^{\prime}\geq1$. As a by-product of our analysis we introduce a class of Bayesian nonparametric estimators (predictors) which can be thought of as Good-Turing type estimators for ancestral inference. The proposed approach is illustrated through an application to genetic data.

stat.ME↗