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Randomized controlled trials are the gold standard for measuring causal effects. However, they are often not always feasible, and causal treatment effects must be estimated from observational data. Observational studies do not allow robust…

A key condition for obtaining reliable estimates of the causal effect of a treatment is overlap (a.k.a. positivity): the distributions of the features used to perform causal adjustment cannot be too different in the treated and control…

Methodology · Statistics 2021-04-14 Alexander D'Amour , Alexander Franks

Our work was motivated by a recent study on birth defects of infants born to pregnant women exposed to a certain medication for treating chronic diseases. Outcomes such as birth defects are rare events in the general population, which often…

Applications · Statistics 2017-02-24 Ronghui Xu , Jue Hou , Christina D. Chambers

Unmeasured confounding presents a significant challenge in causal inference from observational studies. Classical approaches often rely on collecting proxy variables, such as instrumental variables. However, in applications where the…

Methodology · Statistics 2025-01-16 Xiaochuan Shi , Dehan Kong , Linbo Wang

Generalized linear models are often assumed to fit propensity scores, which are used to compute inverse probability weighted (IPW) estimators. In order to derive the asymptotic properties of IPW estimators, the propensity score is supposed…

Methodology · Statistics 2017-04-25 Julieta Molina , Mariela Sued , Marina Valdora

The prevailing method of analyzing GWAS data is still to test each marker individually, although from a statistical point of view it is quite obvious that in case of complex traits such single marker tests are not ideal. Recently several…

Applications · Statistics 2015-06-19 Erich Dolejsi , Bernhard Bodenstorfer , Florian Frommlet

We study variance estimation and associated confidence intervals for parameters characterizing genetic effects from genome-wide association studies (GWAS) misspecified mixed model analysis. Previous studies have shown that, in spite of the…

Methodology · Statistics 2021-01-19 Cecilia Dao , Jiming Jiang , Debashis Paul , Hongyu Zhao

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 development of next generation sequencing (NGS) technology and genotype imputation methods enabled researchers to measure both common and rare variants in genome-wide association studies (GWAS). Statistical methods have been proposed to…

Methodology · Statistics 2018-12-14 XIaoyu Cai , Lo-Bin Chang , Chi Song

Motivated by the inquiries of weak signals in underpowered genome-wide association studies (GWASs), we consider the problem of retaining true signals that are not strong enough to be individually separable from a large amount of noise. We…

Methodology · Statistics 2024-02-05 X. Jessie Jeng , Yifei Hu , Quan Sun , Yun Li

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

Genomics · Quantitative Biology 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

GWAS in humans are revealing the genetic architecture of biomedical and anthropomorphic traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpret these findings, we need to…

Populations and Evolution · Quantitative Biology 2018-03-29 Yuval B. Simons , Kevin Bullaughey , Richard R. Hudson , Guy Sella

Genome-wide association studies (GWAS) have achieved great success in the genetic study of Alzheimer's disease (AD). Collaborative imaging genetics studies across different research institutions show the effectiveness of detecting genetic…

Machine Learning · Computer Science 2017-04-28 Qingyang Li , Dajiang Zhu , Jie Zhang , Derrek Paul Hibar , Neda Jahanshad , Yalin Wang , Jieping Ye , Paul M. Thompson , Jie Wang

If we have an unbiased estimate of some parameter of interest, then its absolute value is positively biased for the absolute value of the parameter. This bias is large when the signal-to-noise ratio (SNR) is small, and it becomes even…

Methodology · Statistics 2020-12-01 Erik van Zwet , Andrew Gelman

Polygenic risk score (PRS) analysis is a powerful method been used to estimate an individual's genetic risk towards targeted traits. PRS analysis could be used to obtain evidence of a genetic effect beyond Genome-Wide Association Studies…

Propensity score (PS) methods are widely used in observational studies to reduce confounding and estimate causal treatment effects. However, the validity of PS-based causal estimators depends heavily on correct model specification, and…

Genome-wide association studies (GWAS) have led to the discovery of numerous single nucleotide polymorphisms (SNPs) associated with various phenotypes and complex diseases. However, the identified genetic variants do not fully explain the…

Methodology · Statistics 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

Nested error regression models are useful tools for analysis of grouped data, especially in the case of small area estimation. This paper suggests a nested error regression model using uncertain random effects in which the random effect in…

Methodology · Statistics 2017-02-28 Shonosuke Sugasawa , Tatsuya Kubokawa

Estimating causal effects from observational data informs us about which factors are important in an autonomous system, and enables us to take better decisions. This is important because it has applications in selecting a treatment in…

Machine Learning · Computer Science 2021-10-29 Plabon Shaha , Talha Islam Zadid , Ismat Rahman , Md. Mosaddek Khan

Genetic variation in human populations is influenced by geographic ancestry due to spatial locality in historical mating and migration patterns. Spatial population structure in genetic datasets has been traditionally analyzed using either…

Populations and Evolution · Quantitative Biology 2016-10-26 Anand Bhaskar , Adel Javanmard , Thomas A. Courtade , David Tse
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