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In this paper, we propose a doubly robust method to present the heterogeneity of the average treatment effect with respect to observed covariates of interest. We consider a situation where a large number of covariates are needed for…

Methodology · Statistics 2017-11-27 Sokbae Lee , Ryo Okui , Yoon-Jae Whang

The development of a complex disease is an intricate interplay of genetic and environmental factors. "Heritability" is defined as the proportion of total trait variance due to genetic factors within a given population. Studies with…

Methodology · Statistics 2018-10-19 Jaron Arbet , Matt McGue , Saonli Basu

The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

Methodology · Statistics 2014-04-30 Ruth Heller , Daniel Yekutieli

Genome-wide association studies (GWAS) provide a means of examining the common genetic variation underlying a range of traits and disorders. In addition, it is hoped that GWAS may provide a means of differentiating affected from unaffected…

We consider the problems of hypothesis testing and model comparison under a flexible Bayesian linear regression model whose formulation is closely connected with the linear mixed effect model and the parametric models for SNP set analysis…

Methodology · Statistics 2015-02-24 Xiaoquan Wen

Motivated by two case studies using primary care records from the Clinical Practice Research Datalink, we describe statistical methods that facilitate the analysis of tall data, with very large numbers of observations. Our focus is on…

Methodology · Statistics 2018-05-14 Kirsty Rhodes , Rebecca Turner , Rupert Payne , Ian White

In genome-wide interaction studies, to detect gene-gene interactions, most methods are divided into two folds: single nucleotide polymorphisms (SNP) based and gene-based methods. Basically, the methods based on the gene are more effective…

Machine Learning · Statistics 2016-06-02 Md ashad Alam , Osamu Komori , Yu-Ping Wang

Motivation: Predicting gene-disease associations (GDAs) is the problem to determine which gene is associated with a disease. GDA prediction can be framed as a ranking problem where genes are ranked for a query disease, based on features…

Quantitative Methods · Quantitative Biology 2026-02-03 Fernando Zhapa-Camacho , Robert Hoehndorf

With advances in sequencing technologies, there are now massive amounts of genomic data from across all life, leading to the possibility that a robust Tree of Life can be constructed. However, "gene tree heterogeneity", which is when…

Populations and Evolution · Quantitative Biology 2018-03-08 Sebastien Roch , Michael Nute , Tandy Warnow

We study treatment effect modifiers for causal analysis in a social network, where neighbors' characteristics or network structure may affect the outcome of a unit, and the goal is to identify sub-populations with varying treatment effects…

Social and Information Networks · Computer Science 2021-11-09 Amir Gilad , Harsh Parikh , Sudeepa Roy , Babak Salimi

A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…

Genomics · Quantitative Biology 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

Researchers often have to deal with heterogeneous population with mixed regression relationships, increasingly so in the era of data explosion. In such problems, when there are many candidate predictors, it is not only of interest to…

Methodology · Statistics 2021-02-05 Yan Li , Chun Yu , Yize Zhao , Robert H. Aseltine , Weixin Yao , Kun Chen

Background: While the importance of gene-gene interactions in human diseases has been well recognized, identifying them has been a great challenge, especially through association studies with millions of genetic markers and thousands of…

Quantitative Methods · Quantitative Biology 2015-05-07 Changshuai Wei , Qing Lu

We develop a general statistical framework for the analysis and inference of large tree-structured data, with a focus on developing asymptotic goodness-of-fit tests. We first propose a consistent statistical model for binary trees, from…

The aetiology of polygenic obesity is multifactorial, which indicates that life-style and environmental factors may influence multiples genes to aggravate this disorder. Several low-risk single nucleotide polymorphisms (SNPs) have been…

Genomics · Quantitative Biology 2018-08-27 Casimiro A. Curbelo Montañez , Paul Fergus , Carl Chalmers , Jade Hind

Knowledge based dialogue systems have attracted increasing research interest in diverse applications. However, for disease diagnosis, the widely used knowledge graph is hard to represent the symptom-symptom relations and symptom-disease…

Computation and Language · Computer Science 2020-12-29 Xinyan Zhao , Liangwei Chen , Huanhuan Chen

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

Populations and Evolution · Quantitative Biology 2014-08-19 Jeremy J. Berg , Graham Coop

The emerging research shows that lncRNAs are associated with a series of complex human diseases. However, most of the existing methods have limitations in identifying nonlinear lncRNA-disease associations (LDAs), and it remains a huge…

Machine Learning · Computer Science 2024-05-07 Jin-Xing Liu , Wen-Yu Xi , Ling-Yun Dai , Chun-Hou Zheng , Ying-Lian Gao

Understanding the relationship between genomic variation and variation in phenotypes for quantitative traits such as physiology, yield, fitness or behavior, will provide important insights for both predicting adaptive evolution and for…

Background: Heritability is a central measure in genetics quantifying how much of the variability observed in a trait is attributable to genetic differences. Existing methods for estimating heritability are most often based on random-effect…

Applications · Statistics 2022-08-26 The Tien Mai , Paul Turner , Jukka Corander