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Detecting the interactions of genetic compounds like genes, SNPs, proteins, metabolites, etc. can potentially unravel the mechanisms behind complex traits and common genetic disorders. Several methods have been taken into consideration for…

Computational Engineering, Finance, and Science · Computer Science 2015-05-26 Francesco Gadaleta

Detailed phenotype information is fundamental to accurate diagnosis and risk estimation of diseases. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However,…

Machine Learning · Computer Science 2023-04-28 Shenghan Zhang , Haoxuan Li , Ruixiang Tang , Sirui Ding , Laila Rasmy , Degui Zhi , Na Zou , Xia Hu

We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is…

Applications · Statistics 2008-04-11 Rodrigo Labouriau , Poul Sørensen , Helle R. Juul-Madsen

In this study, we present a novel approach for predicting genomic information from medical imaging modalities using a transformer-based model. We aim to bridge the gap between imaging and genomics data by leveraging transformer networks,…

Computer Vision and Pattern Recognition · Computer Science 2024-08-02 Aiman Farooq , Deepak Mishra , Santanu Chaudhury

The estimation of covariance matrices of gene expressions has many applications in cancer systems biology. Many gene expression studies, however, are hampered by low sample size and it has therefore become popular to increase sample size by…

We propose a general modeling and inference framework that composes probabilistic graphical models with deep learning methods and combines their respective strengths. Our model family augments graphical structure in latent variables with…

Machine Learning · Statistics 2017-07-10 Matthew J. Johnson , David Duvenaud , Alexander B. Wiltschko , Sandeep R. Datta , Ryan P. Adams

Covariance matrix estimation, a classical statistical topic, poses significant challenges when the sample size is comparable to or smaller than the number of features. In this paper, we frame covariance matrix estimation as a compound…

Methodology · Statistics 2025-03-04 Huqin Xin , Sihai Dave Zhao

Several statistical models used in genome-wide prediction assume independence of marker allele substitution effects, but it is known that these effects might be correlated. In statistics, graphical models have been identified as a useful…

Quantitative Methods · Quantitative Biology 2017-04-13 Carlos Alberto Martínez , Kshitij Khare , Syed Rahman , Mauricio A. Elzo

Heritability is a central parameter in quantitative genetics, both from an evolutionary and a breeding perspective. For plant traits heritability is traditionally estimated by comparing within and between genotype variability. This approach…

Modeling with multi-omics data presents multiple challenges such as the high-dimensionality of the problem ($p \gg n$), the presence of interactions between features, and the need for integration between multiple data sources. We establish…

Methodology · Statistics 2024-09-17 Matteo D'Alessandro , Theophilus Quachie Asenso , Manuela Zucknick

We propose a novel sequence prediction method for sequential data capturing node traversals in graphs. Our method builds on a statistical modelling framework that combines multiple higher-order network models into a single multi-order…

Machine Learning · Computer Science 2023-10-25 Christoph Gote , Giona Casiraghi , Frank Schweitzer , Ingo Scholtes

In the typical analysis of a data set, a single method is selected for statistical reporting even when equally applicable methods yield very different results. Examples of equally applicable methods can correspond to those of different…

Methodology · Statistics 2012-10-30 David R. Bickel

We introduce a novel class of factor analysis methodologies for the joint analysis of multiple studies. The goal is to separately identify and estimate 1) common factors shared across multiple studies, and 2) study-specific factors. We…

Applications · Statistics 2018-06-27 Roberta De Vito , Ruggero Bellio , Lorenzo Trippa , Giovanni Parmigiani

When setting up field experiments, to test and compare a range of genotypes (e.g. maize hybrids), it is important to account for any possible field effect that may otherwise bias performance estimates of genotypes. To do so, we propose a…

Neural and Evolutionary Computing · Computer Science 2019-07-23 Vitaliy Feoktistov , Stephane Pietravalle , Nicolas Heslot

Despite recent molecular technique improvements, biological knowledge remains incomplete. Reasoning on living systems hence implies to integrate heterogeneous and partial informations. Although current investigations successfully focus on…

Quantitative Methods · Quantitative Biology 2009-09-29 Jérémie Bourdon , Damien Eveillard , Samuel Gabillard , Theo Merle

Collection of genotype data in case-control genetic association studies may often be incomplete for reasons related to genes themselves. This non-ignorable missingness structure, if not appropriately accounted for, can result in…

Methodology · Statistics 2024-07-12 Le Wang , Zhengbang Li , Ben Fitzpatrick , Clarice Weinberg , Jinbo Chen

Recent years have witnessed a flurry of research activity in graph matching, which aims at finding the correspondence of nodes across two graphs and lies at the heart of many artificial intelligence applications. However, matching…

Machine Learning · Computer Science 2021-12-21 Weijie Liu , Hui Qian , Chao Zhang , Jiahao Xie , Zebang Shen , Nenggan Zheng

DNA samples are often pooled, either by experimental design, or because the sample itself is a mixture. For example, when population allele frequencies are of primary interest, individual samples may be pooled together to lower the cost of…

Quantitative Methods · Quantitative Biology 2013-02-07 Darren Kessner , Tom Turner , John Novembre

By creating networks of biochemical pathways, communities of micro-organisms are able to modulate the properties of their environment and even the metabolic processes within their hosts. Next-generation high-throughput sequencing has led to…

Applications · Statistics 2023-03-28 Molly G. Hayes , Morgan G. I. Langille , Hong Gu

Balancing influential covariates is crucial for valid treatment comparisons in clinical studies. While covariate-adaptive randomization is commonly used to achieve balance, its performance can be inadequate when the number of baseline…

Methodology · Statistics 2024-12-30 Ziqing Guo , Yang Liu , Lucy Xia
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