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Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

Polygenic risk scores can be used to model the individual genetic liability for human traits. Current methods primarily focus on modeling the mean of a phenotype neglecting the variance. However, genetic variants associated with phenotypic…

Applications · Statistics 2025-09-26 Qiong Wu , Hannah Klinkhammer , Kiran Kunwar , Christian Staerk , Carlo Maj , Andreas Mayr

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Joint analysis of multiple phenotypes can increase statistical power in genetic association studies. Principal component analysis, as a popular dimension reduction method, especially when the number of phenotypes is high-dimensional, has…

Applications · Statistics 2018-06-18 Zhonghua Liu , Xihong Lin

Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of diverse data types, namely gene expression data.…

Machine Learning · Computer Science 2024-04-24 Rita T. Sousa , Heiko Paulheim

Functional graphical models explore dependence relationships of random processes. This is achieved through estimating the precision matrix of the coefficients from the Karhunen-Loeve expansion. This paper deals with the problem of…

Methodology · Statistics 2021-10-14 Ilias Moysidis , Bing Li

Assessing the statistical power to detect susceptibility variants plays a critical role in GWA studies both from the prospective and retrospective points of view. Power is empirically estimated by simulating phenotypes under a disease model…

Applications · Statistics 2012-01-25 Vittorio Perduca , Christine Sinoquet , Raphael Mourad , Gregory Nuel

With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of variant effect (MAVEs), which allow the functional…

Although genome-wide association studies (GWAS) have proven powerful for comprehending the genetic architecture of complex traits, they are challenged by a high dimension of single-nucleotide polymorphisms (SNPs) as predictors, the presence…

Applications · Statistics 2015-09-15 Jiahan Li , Zhong Wang , Runze Li , Rongling Wu

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

Genotype-to-phenotype maps and the related fitness landscapes that include epistatic interactions are difficult to measure because of their high dimensional structure. Here we construct such a map using the recently collected corpora of…

Populations and Evolution · Quantitative Biology 2014-04-04 Jakub Otwinowski , Ilya Nemenman

While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the…

Machine Learning · Computer Science 2023-02-15 Wenting Ye , Xiang Liu , Tianwei Yue , Wenping Wang

Selecting influential nonlinear interactive features from ultrahigh dimensional data has been an important task in various fields. However, statistical accuracy and computational feasibility are the two biggest concerns when more than half…

Methodology · Statistics 2021-11-15 Randall Reese , Guifang Fu , Geran Zhao , Xiaotian Dai , Xiaotian Li , Kenneth Chiu

Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this…

Quantitative Methods · Quantitative Biology 2012-08-23 Peter Carbonetto , Matthew Stephens

Understanding the relationships between different properties of data, such as whether a connectome or genome has information about disease status, is becoming increasingly important in modern biological datasets. While existing approaches…

Machine Learning · Statistics 2024-06-27 Joshua T. Vogelstein , Eric Bridgeford , Qing Wang , Carey E. Priebe , Mauro Maggioni , Cencheng Shen

Identifying shared genetic risk factors for multiple measured traits has been of great interest in studying complex disorders. Marlow's (2003) method for detecting shared gene effects on complex traits has been highly influential in the…

Methodology · Statistics 2009-04-16 Summer S. Han , Elena L. Grigorenko , Joseph T. Chang

Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence…

Other Quantitative Biology · Quantitative Biology 2023-07-27 IGVF Consortium

It is difficult to predict how antibodies will behave when mixed together, even after each has been independently characterized. Here, we present a statistical mechanical model for the activity of antibody mixtures that accounts for whether…

Cell Behavior · Quantitative Biology 2020-07-01 Tal Einav , Jesse D Bloom

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

Recombinant Inbred Lines derived from divergent parental lines can display extensive segregation distortion and long-range linkage disequilibrium (LD) between distant loci. These genomic signatures are consistent with epistatic selection…

Applications · Statistics 2018-01-03 P. Behrouzi , E. C. Wit
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