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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

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…

Genomic data arising from a genome-wide association study (GWAS) are often not only of large-scale, but also incomplete. A specific form of their incompleteness is missing values with non-ignorable missingness mechanism. The intrinsic…

Methodology · Statistics 2021-11-11 Siru Wang , Guoqi Qian

The objective of a genome-wide association study (GWAS) is to associate subsequences of individuals' genomes to the observable characteristics called phenotypes (e.g., high blood pressure). Motivated by the GWAS problem, in this paper we…

Information Theory · Computer Science 2020-10-15 Behrooz Tahmasebi , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

Genome-Wide Association Studies (GWAS) explain only a small fraction of heritability for most complex human phenotypes. Genomic heritability estimates the variance explained by the SNPs on the whole genome using mixed models and accounts…

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

Penalization schemes like Lasso or ridge regression are routinely used to regress a response of interest on a high-dimensional set of potential predictors. Despite being decisive, the question of the relative strength of penalization is…

Methodology · Statistics 2018-11-08 Britta Velten , Wolfgang Huber

Propensity scores are commonly used to estimate treatment effects from observational data. We argue that the probabilistic output of a learned propensity score model should be calibrated -- i.e., a predictive treatment probability of 90%…

Methodology · Statistics 2024-06-06 Shachi Deshpande , Volodymyr Kuleshov

Sparse regularized regression methods are now widely used in genome-wide association studies (GWAS) to address the multiple testing burden that limits discovery of potentially important predictors. Linear mixed models (LMMs) have become an…

Methodology · Statistics 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

Methodology · Statistics 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations…

Methodology · Statistics 2024-12-10 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

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

Risk prediction models using genetic data have seen increasing traction in genomics. However, most of the polygenic risk models were developed using data from participants with similar (mostly European) ancestry. This can lead to biases in…

Machine Learning · Computer Science 2022-05-11 Prashnna K Gyawali , Yann Le Guen , Xiaoxia Liu , Hua Tang , James Zou , Zihuai He

We consider a method to jointly estimate sparse precision matrices and their underlying graph structures using dependent high-dimensional datasets. We present a penalized maximum likelihood estimator which encourages both sparsity and…

Applications · Statistics 2016-08-22 Adria Caballe , Natalia Bochkina , Claus Mayer

Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…

Methodology · Statistics 2014-01-21 Dongjun Chung , Can Yang , Cong Li , Joel Gelernter , Hongyu Zhao

Polygenic risk scores (PRS) developed from genome-wide association studies (GWAS) can be used for risk stratification by quantifying the genetic contribution to disease, and many clinical applications have been proposed. Bayesian methods…

Methodology · Statistics 2026-03-11 Yuzheng Dun , Nilanjan Chatterjee , Jin Jin , Akihiko Nishimura

Although genome-wide association studies (GWAS) on complex traits have achieved great successes, the current leading GWAS approaches simply perform to test each genotype-phenotype association separately for each genetic variant. Curiously,…

Applications · Statistics 2022-08-26 The Tien Mai , Pierre Alquier

Propensity scores are commonly used to reduce the confounding bias in non-randomized observational studies for estimating the average treatment effect. An important assumption underlying this approach is that all confounders that are…

Methodology · Statistics 2022-08-02 Youfei Yu , Jiacong Du , Min Zhang , Zhenke Wu , Andrew M. Ryan , Bhramar Mukherjee

In cancer research, profiling studies have been extensively conducted, searching for genes/SNPs associated with prognosis. Cancer is a heterogeneous disease. Examining similarity and difference in the genetic basis of multiple subtypes of…

Methodology · Statistics 2013-04-18 Jin Liu , Jian Huang , Yawei Zhang , Qing Lan , Nathaniel Rothman , Tongzhang Zheng , Shuangge Ma

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…

Machine Learning · Computer Science 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers