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This work was motivated by a twin study with the goal of assessing the genetic control of immune traits. We propose a mixture bivariate distribution to model twin data where the underlying order within a pair is unclear. Though estimation…

Methodology · Statistics 2025-07-21 Zonghui Hu , Pengfei Li , Dean Follmann , Jing Qin

With declining sequencing costs a promising and affordable tool is emerging in cancer diagnostics: genomics. By using association studies, genomic variants that predispose patients to specific cancers can be identified, while by using tumor…

Genomics · Quantitative Biology 2020-04-28 Daniel Mas Montserrat , Arvind Kumar , Carlos Bustamante , Alexander Ioannidis

While the individuals chosen for a genome-wide association study (GWAS) may not be closely related to each other, there can be distant (cryptic) relationships that confound the evidence of disease association. These cryptic relationships…

Quantitative Methods · Quantitative Biology 2016-02-26 Bonnie Kirkpatrick , Alexandre Bouchard-Côté

Bias in causal comparisons has a direct correspondence with distributional imbalance of covariates between treatment groups. Weighting strategies such as inverse propensity score weighting attempt to mitigate bias by either modeling the…

Methodology · Statistics 2022-03-14 Jared D. Huling , Simon Mak

Big data presents potential but unresolved value as a source for analysis and inference. However,selection bias, present in many of these datasets, needs to be accounted for so that appropriate inferences can be made on the target…

Methodology · Statistics 2025-01-09 Lyndon Ang , Robert Clark , Bronwyn Loong , Anders Holmberg

Many Mendelian randomization (MR) papers have been conducted only in people of European ancestry, limiting transportability of results to the global population. Expanding MR to diverse ancestry groups is essential to ensure equitable…

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

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

Estimation of the allele frequency at genetic markers is a key ingredient in biological and biomedical research, such as studies of human genetic variation or of the genetic etiology of heritable traits. As genetic data becomes increasingly…

Applications · Statistics 2007-12-18 Marc Coram , Hua Tang

Species tree estimation is a complex problem, due to the fact that different parts of the genome can have different evolutionary histories than the genome itself. One of the causes for this discord is incomplete lineage sorting (also called…

Populations and Evolution · Quantitative Biology 2019-04-09 Erin Molloy , Tandy Warnow

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…

Artificial Intelligence · Computer Science 2024-10-22 Yifan Wu , Yuntao Yang , Zirui Liu , Zhao Li , Khushbu Pahwa , Rongbin Li , Wenjin Zheng , Xia Hu , Zhaozhuo Xu

Inferring predictive maps between multiple input and multiple output variables or tasks has innumerable applications in data science. Multi-task learning attempts to learn the maps to several output tasks simultaneously with information…

Machine Learning · Statistics 2017-10-06 Ming Yu , Addie M. Thompson , Karthikeyan Natesan Ramamurthy , Eunho Yang , Aurélie C. Lozano

Inferring concerted changes among biological traits along an evolutionary history remains an important yet challenging problem. Besides adjusting for spurious correlation induced from the shared history, the task also requires sufficient…

Estimating the causal effect of a treatment or health policy with observational data can be challenging due to an imbalance of and a lack of overlap between treated and control covariate distributions. In the presence of limited overlap,…

Methodology · Statistics 2025-03-24 Martha Barnard , Jared D. Huling , Julian Wolfson

Genotyping errors are known to influence the power of both family-based and case-control studies in the genetics of complex disease. Estimating genotyping error rate in a given dataset can be complex, but when family information is…

Quantitative Methods · Quantitative Biology 2011-09-08 Luke Jostins

Population genetics seeks to quantify DNA variant associations with traits or diseases, as well as interactions among variants and with environmental factors. Computing millions of estimates in large cohorts in which small effect sizes are…

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

Quantitative Methods · Quantitative Biology 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

Correlations between two variables of a high-dimensional system can be indicative of an underlying interaction, but can also result from indirect effects. Inverse Ising inference is a method to distinguish one from the other. Essentially,…

Populations and Evolution · Quantitative Biology 2014-12-10 Benedikt Obermayer , Erel Levine

Quantitative genetic studies that model complex, multivariate phenotypes are important for both evolutionary prediction and artificial selection. For example, changes in gene expression can provide insight into developmental and…

Applications · Statistics 2013-05-03 Daniel E Runcie , Sayan Mukherjee

Much of the on-going statistical analysis of DNA sequences is focused on the estimation of characteristics of coding and non-coding regions that would possibly allow discrimination of these regions. In the current approach, we concentrate…

Genomics · Quantitative Biology 2009-11-10 D. Kugiumtzis , A. Provata