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Heritability is a central parameter in quantitative genetics, both from an evolutionary and a breeding perspective. For plant traits heritability is traditionally estimated by comparing within and between genotype variability. This approach…

The variance component tests used in genomewide association studies of thousands of individuals become computationally exhaustive when multiple traits are analysed in the context of omics studies. We introduce two high-throughput algorithms…

计算工程、金融与科学 · 计算机科学 2012-11-13 Diego Fabregat-Traver , Yurii S. Aulchenko , Paolo Bientinesi

Treatment effect heterogeneity occurs when individual characteristics influence the effect of a treatment. We propose a novel approach that combines prognostic score matching and conditional inference trees to characterize effect…

This paper studies the problem of statistical inference for genetic relatedness between binary traits based on individual-level genome-wide association data. Specifically, under the high-dimensional logistic regression models, we define…

统计方法学 · 统计学 2022-10-06 Rong Ma , Zijian Guo , T. Tony Cai , Hongzhe Li

Gene-disease associations are fundamental for understanding disease etiology and developing effective interventions and treatments. Identifying genes not yet associated with a disease due to a lack of studies is a challenging task in which…

机器学习 · 计算机科学 2023-03-08 Paola Stolfi , Andrea Mastropietro , Giuseppe Pasculli , Paolo Tieri , Davide Vergni

Estimating how a treatment affects units individually, known as heterogeneous treatment effect (HTE) estimation, is an essential part of decision-making and policy implementation. The accumulation of large amounts of data in many domains,…

机器学习 · 计算机科学 2022-06-28 Christopher Tran , Elena Zheleva

Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

Testing for Hardy-Weinberg equilibrium (HWE) is a fundamental component of genetic data analysis, widely used for quality control and model validation. Although HWE testing is well established for autosomal loci, inference on the X…

应用统计 · 统计学 2026-05-20 Lin Zhang , Andrew Paterson , Lei Sun

Binary treatments are often ex-post aggregates of multiple treatments or can be disaggregated into multiple treatment versions. Thus, effects can be heterogeneous due to either effect or treatment heterogeneity. We propose a decomposition…

计量经济学 · 经济学 2023-08-08 Phillip Heiler , Michael C. Knaus

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

机器学习 · 计算机科学 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers

Accurate power and sample size estimation are crucial to the design and analysis of genetic association studies. When analyzing a binary trait via logistic regression, important covariates such as age and sex are typically included in the…

统计方法学 · 统计学 2022-10-05 Ziang Zhang , Lei Sun

Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

应用统计 · 统计学 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

Graphical models are commonly used to discover associations within gene or protein networks for complex diseases such as cancer. Most existing methods estimate a single graph for a population, while in many cases, researchers are interested…

Gene-gene interactions play a crucial role in the manifestation of complex human diseases. Uncovering significant gene-gene interactions is a challenging task. Here, we present an innovative approach utilizing data-driven computational…

人工智能 · 计算机科学 2024-10-22 Yifan Wu , Yuntao Yang , Zirui Liu , Zhao Li , Khushbu Pahwa , Rongbin Li , Wenjin Zheng , Xia Hu , Zhaozhuo Xu

Genome-wide association analysis has generated much discussion about how to preserve power to detect signals despite the detrimental effect of multiple testing on power. We develop a weighted multiple testing procedure that facilitates the…

统计理论 · 数学 2007-06-13 Kathryn Roeder , Bernie Devlin , Larry Wasserman

To date, efforts to produce high-quality polygenic risk scores from genome-wide studies of common disease have focused on estimating and aggregating the effects of multiple SNPs. Here we propose a novel statistical approach for genetic risk…

定量方法 · 定量生物学 2014-05-13 David Golan , Saharon Rosset

In this paper, I try to tame "Basu's elephants" (data with extreme selection on observables). I propose new practical large-sample and finite-sample methods for estimating and inferring heterogeneous causal effects (under unconfoundedness)…

计量经济学 · 经济学 2023-01-20 Ganesh Karapakula

Using administrative patient-care data such as Electronic Health Records (EHR) and medical/ pharmaceutical claims for population-based scientific research has become increasingly common. With vast sample sizes leading to very small standard…

统计方法学 · 统计学 2023-08-21 Ritoban Kundu , Xu Shi , Jean Morrison , Jessica Barrett , Bhramar Mukherjee

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…

统计方法学 · 统计学 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Genome-wide association studies (GWASs) have been extensively adopted to depict the underlying genetic architecture of complex diseases. Motivated by GWASs' limitations in identifying small effect loci to understand complex traits'…

统计方法学 · 统计学 2023-10-09 Xinran Qi , Michael E. Belloy , Jiaqi Gu , Xiaoxia Liu , Hua Tang , Zihuai He