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Elucidating the genetic basis of human diseases is a central goal of genetics and molecular biology. While traditional linkage analysis and modern high-throughput techniques often provide long lists of tens or hundreds of disease gene…

Quantitative Methods · Quantitative Biology 2011-06-03 Fantine Mordelet , Jean-Philippe Vert

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

Real-world clinical problems are often characterized by multimodal data, usually associated with incomplete views and limited sample sizes in their cohorts, posing significant limitations for machine learning algorithms. In this work, we…

The recent availability of huge, many-dimensional data sets, like those arising from genome-wide association studies (GWAS), provides many opportunities for strengthening causal inference. One popular approach is to utilize these…

Machine Learning · Statistics 2020-12-21 Ioan Gabriel Bucur , Tom Claassen , Tom Heskes

The goal of causal inference is to understand the outcome of alternative courses of action. However, all causal inference requires assumptions. Such assumptions can be more influential than in typical tasks for probabilistic modeling, and…

Methodology · Statistics 2016-10-31 Dustin Tran , Francisco J. R. Ruiz , Susan Athey , David M. Blei

Building prediction models for outcomes of clinical relevance when only a limited number of mutational features are available causes considerable challenges due to the sparseness and low-dimensionality of the data. In this article, we…

Genomics · Quantitative Biology 2022-12-13 Maya Ramchandran , Maayan Baron

Recent substantial advances of molecular targeted oncology drug development is requiring new paradigms for early-phase clinical trial methodologies to enable us to evaluate efficacy of several subtypes simultaneously and efficiently. The…

Methodology · Statistics 2023-02-17 Satoshi Hattori , Satoshi Morita

Motivated by examples from genetic association studies, this paper considers the model selection problem in a general complex linear model system and in a Bayesian framework. We discuss formulating model selection problems and incorporating…

Methodology · Statistics 2014-03-14 Xiaoquan Wen

Causal inferences from a randomized controlled trial (RCT) may not pertain to a target population where some effect modifiers have a different distribution. Prior work studies generalizing the results of a trial to a target population with…

Machine Learning · Statistics 2024-06-06 Ilker Demirel , Ahmed Alaa , Anthony Philippakis , David Sontag

A data science task can be deemed as making sense of the data or testing a hypothesis about it. The conclusions inferred from data can greatly guide us to make informative decisions. Big data has enabled us to carry out countless prediction…

Machine Learning · Computer Science 2022-01-12 Wenhao Zhang , Ramin Ramezani , Arash Naeim

Bi-clustering is a useful approach in analyzing biological data when observations come from heterogeneous groups and have a large number of features. We outline a general Bayesian approach in tackling bi-clustering problems in moderate to…

Applications · Statistics 2021-02-11 Han Yan , Jiexing Wu , Yang Li , Jun S. Liu

Objective: The growing availability of large-scale observational clinical datasets and challenges in conducting randomized controlled trials have spurred enthusiasm in using causal machine learning (ML) for causal inference in observational…

Personalizing drug prescriptions in cancer care based on genomic information requires associating genomic markers with treatment effects. This is an unsolved challenge requiring genomic patient data in yet unavailable volumes as well as…

Causal discovery is crucial for understanding complex systems and informing decisions. While observational data can uncover causal relationships under certain assumptions, it often falls short, making active interventions necessary. Current…

Machine Learning · Computer Science 2024-06-18 Yuxuan Wang , Mingzhou Liu , Xinwei Sun , Wei Wang , Yizhou Wang

We propose a flexible nonparametric Bayesian modelling framework for multivariate time series of count data based on tensor factorisations. Our models can be viewed as infinite state space Markov chains of known maximal order with…

Methodology · Statistics 2023-11-13 Zhongzhen Wang , Petros Dellaportas , Ioannis Kosmidis

Efficient design of genomic perturbation experiments is crucial for accelerating drug discovery and therapeutic target identification, yet exhaustive perturbation of the human genome remains infeasible due to the vast search space of…

Machine Learning · Statistics 2026-03-24 Yanke Li , Tianyu Cui , Tommaso Mansi , Mangal Prakash , Rui Liao

Estimating the causal effect of an exposure on an outcome is an important task in many economical and biological studies. Mendelian randomization, in particular, uses genetic variants as instruments to estimate causal effects in…

Methodology · Statistics 2017-06-06 Sai Li

Mendelian randomization (MR) has become an essential tool for causal inference in biomedical and public health research. By using genetic variants as instrumental variables, MR helps address unmeasured confounding and reverse causation,…

Methodology · Statistics 2025-11-04 Minhao Yao , Anqi Wang , Xihao Li , Zhonghua Liu

Predicting the efficacy of a drug for a given individual, using high-dimensional genomic measurements, is at the core of precision medicine. However, identifying features on which to base the predictions remains a challenge, especially when…

When designing materials to optimize certain properties, there are often many possible configurations of designs that need to be explored. For example, the materials' composition of elements will affect properties such as strength or…

Machine Learning · Computer Science 2025-03-20 Shaan Pakala , Dawon Ahn , Evangelos Papalexakis