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Motivated by the growing availability of personal genomics services, we study an information-theoretic privacy problem that arises when sharing genomic data: a user wants to share his or her genome sequence while keeping the genotypes at…

Information Theory · Computer Science 2021-10-18 Fangwei Ye , Hyunghoon Cho , Salim El Rouayheb

Background: Missing data is a common challenge in mass spectrometry-based metabolomics, which can lead to biased and incomplete analyses. The integration of whole-genome sequencing (WGS) data with metabolomics data has emerged as a…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

In analyzing of modern biological data, we are often dealing with ill-posed problems and missing data, mostly due to high dimensionality and multicollinearity of the dataset. In this paper, we have proposed a system based on matrix…

Neural and Evolutionary Computing · Computer Science 2016-01-19 Farhad Pouladi , Hojjat Salehinejad , Amir Mohammad Gilani

Analyzing the health status of patients based on Electronic Health Records (EHR) is a fundamental research problem in medical informatics. The presence of extensive missing values in EHR makes it challenging for deep neural networks (DNNs)…

Machine Learning · Computer Science 2025-03-14 Weibin Liao , Yinghao Zhu , Zhongji Zhang , Yuhang Wang , Zixiang Wang , Xu Chu , Yasha Wang , Liantao Ma

Many forensic genetic trace samples are of too low quality to obtain short tandem repeat (STR) DNA profiles as the nuclear DNA they contain is highly degraded (e.g., telogen hairs). Instead, performing shotgun DNA sequencing of such samples…

Applications · Statistics 2026-03-10 Mikkel Meyer Andersen

Genotype-to-phenotype prediction is a central goal of statistical genetics, yet practical comparisons of prediction workflows remain limited in small, heterogeneous, participant-shared genomic datasets. Here, we benchmarked end-to-end…

Genomics · Quantitative Biology 2026-05-05 Muhammad Muneeb , David B. Ascher , YooChan Myung , Samuel F. Feng , Andreas Henschel

Datasets with missing values are very common on industry applications, and they can have a negative impact on machine learning models. Recent studies introduced solutions to the problem of imputing missing values based on deep generative…

Machine Learning · Computer Science 2019-02-28 Ramiro D. Camino , Christian A. Hammerschmidt , Radu State

In forensic genetics, short tandem repeats (STRs) are used for human identification (HID). Degraded biological trace samples with low amounts of short DNA fragments (low-quality DNA samples) pose a challenge for STR typing. Predefined…

Identifying genetic regulators of DNA methylation (mQTLs) with multivariate models enhances statistical power, but is challenged by missing data from bisulfite sequencing. Standard imputation-based methods can introduce bias, limiting…

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

Applications · Statistics 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

There is a growing need for flexible general frameworks that integrate individual-level data with external summary information for improved statistical inference. External information relevant for a risk prediction model may come in…

Methodology · Statistics 2023-04-11 Tian Gu , Jeremy M. G. Taylor , Bhramar Mukherjee

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

Machine Learning · Computer Science 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun

Datasets with missing values are very common in real world applications. GAIN, a recently proposed deep generative model for missing data imputation, has been proved to outperform many state-of-the-art methods. But GAIN only uses a…

Machine Learning · Computer Science 2021-04-07 Yufeng Wang , Dan Li , Xiang Li , Min Yang

Feature selection is a critical task in machine learning and statistics. However, existing feature selection methods either (i) rely on parametric methods such as linear or generalized linear models, (ii) lack theoretical false discovery…

Machine Learning · Statistics 2025-07-18 Omar Melikechi , David B. Dunson , Jeffrey W. Miller

Treatment effects in regression discontinuity designs (RDDs) are often estimated using local regression methods. \cite{Hahn:01} demonstrated that the identification of the average treatment effect at the cutoff in RDDs relies on the…

Econometrics · Economics 2024-12-30 Weiwei Jiang , Rong J. B. Zhu

An explosion of high-throughput DNA sequencing in the past decade has led to a surge of interest in population-scale inference with whole-genome data. Recent work in population genetics has centered on designing inference methods for…

Machine Learning · Computer Science 2018-11-07 Jeffrey Chan , Valerio Perrone , Jeffrey P. Spence , Paul A. Jenkins , Sara Mathieson , Yun S. Song

This paper introduces a novel paradigm to impute missing data that combines a decision tree with an auto-associative neural network (AANN) based model and a principal component analysis-neural network (PCA-NN) based model. For each model,…

Applications · Statistics 2007-09-12 George Ssali , Tshilidzi Marwala

Electronic health record (EHR)-linked biobank data hold tremendous promise for large-scale discoveries via genome-wide association study (GWAS) on diverse phenotypic traits and biomarkers routinely captured in the EHR. However,…

Applications · Statistics 2026-04-14 Xingran Chen , Cheng-Han Yang , Zhenke Wu , Bhramar Mukherjee

Traditional regression and prediction tasks often only provide deterministic point estimates. To estimate the distribution or uncertainty of the response variable, traditional methods either assume that the posterior distribution of samples…

Machine Learning · Computer Science 2025-01-08 Daojun Liang , Haixia Zhang , Dongfeng Yuan