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Motivated by empirical arguments that are well-known from the genome-wide association studies (GWAS) literature, we study the statistical properties of linear mixed models (LMMs) applied to GWAS. First, we study the sensitivity of LMMs to…

Quantitative Methods · Quantitative Biology 2021-11-09 Haohan Wang , Bryon Aragam , Eric Xing

Recent advances of information technology in biomedical sciences and other applied areas have created numerous large diverse data sets with a high dimensional feature space, which provide us a tremendous amount of information and new…

Applications · Statistics 2008-12-18 Yulan Liang , Arpad Kelemen

Missing data can lead to inefficiencies and biases in analyses, in particular when data are missing not at random (MNAR). It is thus vital to understand and correctly identify the missing data mechanism. Recovering missing values through a…

Methodology · Statistics 2022-12-08 Jack Noonan , Adetola Adedamola Adediran , Robin Mitra , Stefanie Biedermann

In this paper, association results from genome-wide association studies (GWAS) are combined with a deep learning framework to test the predictive capacity of statistically significant single nucleotide polymorphism (SNPs) associated with…

Computers and Society · Computer Science 2018-08-27 Casimiro Adays Curbelo Montañez , Paul Fergus , Almudena Curbelo Montañez , Carl Chalmers

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

Machine Learning · Statistics 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

The problems of large-scale multiple testing are often encountered in modern scientific researches. Conventional multiple testing procedures usually suffer considerable loss of testing efficiency due to the lack of consideration of…

Methodology · Statistics 2022-12-21 Pengfei Wang , Zhaofeng Tian

The Genotype-Tissue Expression (GTEx) project collects samples from multiple human tissues to study the relationship between genetic variation or single nucleotide polymorphisms (SNPs) and gene expression in each tissue. However, most…

Methodology · Statistics 2022-11-28 Fei Xue , Hongzhe Li

Genome-wide association studies (GWAS) are commonly employed to study the genetic basis of complex traits and diseases, and a key question is how much heritability could be explained by all variants in GWAS. One widely used approach that…

Genomics · Quantitative Biology 2023-06-27 Hon-Cheong So , Xiao Xue , Pak-Chung Sham

Background: Single-cell RNA sequencing (scRNA-seq) is a powerful profiling technique at the single-cell resolution. Appropriate analysis of scRNA-seq data can characterize molecular heterogeneity and shed light into the underlying cellular…

Applications · Statistics 2019-08-05 Siamak Zamani Dadaneh , Paul de Figueiredo , Sing-Hoi Sze , Mingyuan Zhou , Xiaoning Qian

Causal mediation analysis, pleiotropy analysis, and replication analysis are three highly popular genetic study designs. Although these analyses address different scientific questions, the underlying inference problems all involve…

Methodology · Statistics 2023-09-25 Ryan Sun , Zachary McCaw , Xihong Lin

Given an observed sample from a population of individuals belonging to species, "species-sampling" problems (SSPs) call for estimating some features of the unknown species composition of additional unobservable samples from the same…

Statistics Theory · Mathematics 2024-04-30 Cecilia Balocchi , Stefano Favaro , Zacharie Naulet

We develop a Bayesian bivariate spatial model for multivariate regression analysis applicable to studies examining the influence of genetic variation on brain structure. Our model is motivated by an imaging genetics study of the Alzheimer's…

Methodology · Statistics 2020-05-26 Yin Song , Shufei Ge , Jiguo Cao , Liangliang Wang , Farouk S. Nathoo

We present a new method based on Functional Data Analysis (FDA) for detecting associations between one or more scalar covariates and a longitudinal response, while correcting for other variables. Our methods exploit the temporal structure…

Applications · Statistics 2014-04-30 Matthew Reimherr , Dan Nicolae

The stochastic block model (SBM) is a probabilistic model for community structure in networks. Typically, only the adjacency matrix is used to perform SBM parameter inference. In this paper, we consider circumstances in which nodes have an…

Social and Information Networks · Computer Science 2018-03-09 Natalie Stanley , Thomas Bonacci , Roland Kwitt , Marc Niethammer , Peter J. Mucha

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

Genomics · Quantitative Biology 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

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

Attributed network data is becoming increasingly common across fields, as we are often equipped with information about nodes in addition to their pairwise connectivity patterns. This extra information can manifest as a classification, or as…

Social and Information Networks · Computer Science 2018-05-22 Natalie Stanley , Marc Niethammer , Peter J. Mucha

Bidirectional associative memory (BAM) is a kind of an artificial neural network used to memorize and retrieve heterogeneous pattern pairs. Many efforts have been made to improve BAM from the the viewpoint of computer application, and few…

Disordered Systems and Neural Networks · Physics 2009-11-10 Hayaru Shouno , Shoji Kido , Masato Okada

Exploring the genetic basis of heritable traits remains one of the central challenges in biomedical research. In simple cases, single polymorphic loci explain a significant fraction of the phenotype variability. However, many traits of…

Populations and Evolution · Quantitative Biology 2015-03-20 Barbara Rakitsch , Christoph Lippert , Oliver Stegle , Karsten Borgwardt