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Modern biological techniques enable very dense genetic sampling of unfolding evolutionary histories, and thus frequently sample some genotypes multiple times. This motivates strategies to incorporate genotype abundance information in…

Populations and Evolution · Quantitative Biology 2018-04-09 William S. DeWitt , Luka Mesin , Gabriel D. Victora , Vladimir N. Minin , Frederick A. Matsen

Estimation of the allele frequency at genetic markers is a key ingredient in biological and biomedical research, such as studies of human genetic variation or of the genetic etiology of heritable traits. As genetic data becomes increasingly…

Applications · Statistics 2007-12-18 Marc Coram , Hua Tang

Developing tools for estimating heterogeneous treatment effects (HTE) and individualized treatment effects has been an area of active research in recent years. While these tools have proven to be useful in many contexts, a concern when…

Methodology · Statistics 2025-03-07 Mahsa Ashouri , Nicholas C. Henderson

Stacking is a widely used model averaging technique that asymptotically yields optimal predictions among linear averages. We show that stacking is most effective when model predictive performance is heterogeneous in inputs, and we can…

Methodology · Statistics 2021-10-29 Yuling Yao , Gregor Pirš , Aki Vehtari , Andrew Gelman

Model selection aims to identify a sufficiently well performing model that is possibly simpler than the most complex model among a pool of candidates. However, the decision-making process itself can inadvertently introduce non-negligible…

Methodology · Statistics 2024-08-08 Yann McLatchie , Aki Vehtari

In genetic association studies, rare variants with extremely small allele frequency play a crucial role in complex traits, and the set-based testing methods that jointly assess the effects of groups of single nucleotide polymorphisms (SNPs)…

Methodology · Statistics 2020-03-13 Shonosuke Sugasawa , Hisashi Noma

Motivated by genetic association studies of pleiotropy, we propose here a Bayesian latent variable approach to jointly study multiple outcomes or phenotypes. The proposed method models both continuous and binary phenotypes, and it accounts…

Applications · Statistics 2012-11-08 Lizhen Xu , Radu V. Craiu , Lei Sun

Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases. A key step is calling an individual's genotype from the multiple aligned short read…

Applications · Statistics 2012-06-29 Baiyu Zhou , Alice S. Whittemore

Boosting variational inference (BVI) approximates an intractable probability density by iteratively building up a mixture of simple component distributions one at a time, using techniques from sparse convex optimization to provide both…

Machine Learning · Statistics 2019-10-29 Trevor Campbell , Xinglong Li

Variational inference is a general approach for approximating complex density functions, such as those arising in latent variable models, popular in machine learning. It has been applied to approximate the maximum likelihood estimator and…

Methodology · Statistics 2018-04-19 Yen-Chi Chen , Y. Samuel Wang , Elena A. Erosheva

Comparative biologists are often interested in inferring covariation between multiple biological traits sampled across numerous related taxa. To properly study these relationships, we must control for the shared evolutionary history of the…

High-throughput gene perturbation experiments can test several genetic interventions in parallel, yet experimental budgets remain limited. A central goal is hit discovery: identifying as many perturbations as possible whose phenotypic…

Machine Learning · Computer Science 2026-05-12 Andrea Rubbi , Arpit Merchant , Samuel Ogden , Amir Akbarnejad , Pietro Liò , Sattar Vakili , Mo Lotfollahi

Gene expression and phenotype association can be affected by potential unmeasured confounders from multiple sources, leading to biased estimates of the associations. Since genetic variants largely explain gene expression variations, they…

Methodology · Statistics 2019-10-23 Jiarui Lu , Hongzhe Li

High-dimensional data can be useful for causal inference by providing many confounders that may bolster the plausibility of the ignorability assumption. Propensity score methods are powerful tools for causal inference, are popular in health…

Methodology · Statistics 2017-10-10 Jacob Spertus , Sharon-Lise Normand

Mendelian randomization (MR) is a method of exploiting genetic variation to unbiasedly estimate a causal effect in presence of unmeasured confounding. MR is being widely used in epidemiology and other related areas of population science. In…

Applications · Statistics 2019-01-03 Qingyuan Zhao , Jingshu Wang , Gibran Hemani , Jack Bowden , Dylan S. Small

We propose a novel boosting approach to multi-class classification problems, in which multiple classes are distinguished by a set of random projection matrices in essence. The approach uses random projections to alleviate the proliferation…

Machine Learning · Computer Science 2013-02-06 Sakrapee Paisitkriangkrai , Chunhua Shen , Qinfeng Shi , Anton van den Hengel

Inferring dependencies between complex biological traits while accounting for evolutionary relationships between specimens is of great scientific interest yet remains infeasible when trait and specimen counts grow large. The…

Speech enhancement in hearing aids remains a difficult task in nonstationary acoustic environments, mainly because current signal processing algorithms rely on fixed, manually tuned parameters that cannot adapt in situ to different users or…

Imputation using external reference panels is a widely used approach for increasing power in GWAS and meta-analysis. Existing HMM-based imputation approaches require individual-level genotypes. Here, we develop a new method for Gaussian…

A common goal in modern biostatistics is to form a biomarker signature from high dimensional gene expression data that is predictive of some outcome of interest. After learning this biomarker signature, an important question to answer is…

Statistics Theory · Mathematics 2015-10-05 Samuel M. Gross , Jonathan Taylor , Robert Tibshirani