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Matched case-control studies are commonly employed in epidemiological research for their convenience and efficiency. Analysis of secondary outcomes can yield valuable insights into biological pathways and help identify genetic variants of…

Methodology · Statistics 2026-02-24 Shanshan Liu , Guoqing Diao

As high-throughput sequencing has become common practice, the cost of sequencing large amounts of genetic data has been drastically reduced, leading to much larger data sets for analysis. One important task is to identify biological…

Methodology · Statistics 2014-10-14 Ciaran Evans , Johanna Hardin , Mark Huber , Daniel Stoebel , Garrett Wong

Isoform quantification is an important goal of RNA-seq experiments, yet it remains prob- lematic for genes with low expression or several isoforms. These difficulties may in principle be ameliorated by exploiting correlated experimental…

Genomics · Quantitative Biology 2016-02-23 Yuanhua Huang , Guido Sanguinetti

We develop a framework for derivative Gaussian process latent variable models (DGP-LVMs) that can handle multi-dimensional output data using modified derivative covariance functions. The modifications account for complexities in the…

Methodology · Statistics 2025-06-10 Soham Mukherjee , Manfred Claassen , Paul-Christian Bürkner

Variable names are critical for conveying intended program behavior. Machine learning-based program analysis methods use variable name representations for a wide range of tasks, such as suggesting new variable names and bug detection.…

Software Engineering · Computer Science 2021-12-07 Qibin Chen , Jeremy Lacomis , Edward J. Schwartz , Graham Neubig , Bogdan Vasilescu , Claire Le Goues

In a standard regression problem, we have a set of explanatory variables whose effect on some response vector is modeled. For wide binary data, such as genetic marker data, we often have two limitations. First, we have more parameters than…

Methodology · Statistics 2021-09-20 Katharina Parry , Leo N. Geppert , Alexander Munteanu , Katja Ickstadt

A deep latent variable model is a powerful method for capturing complex distributions. These models assume that underlying structures, but unobserved, are present within the data. In this dissertation, we explore high-dimensional problems…

Machine Learning · Computer Science 2024-06-13 Khuong Vo

The analysis of differential gene expression from RNA-Seq data has become a standard for several research areas mainly involving bioinformatics. The steps for the computational analysis of these data include many data types and file…

Genomics · Quantitative Biology 2021-09-09 Juliana Costa-Silva , Douglas S. Domingues , David Menotti , Mariangela Hungria , Fabricio M Lopes

The success of Transformer-based models has encouraged many researchers to learn CAD models using sequence-based approaches. However, learning CAD models is still a challenge, because they can be represented as complex shapes with long…

Computer Vision and Pattern Recognition · Computer Science 2024-04-03 Minseop Jung , Minseong Kim , Jibum Kim

In recent years, self-supervised representation learning for skeleton-based action recognition has advanced with the development of contrastive learning methods. However, most of contrastive paradigms are inherently discriminative and often…

Computer Vision and Pattern Recognition · Computer Science 2026-01-13 Dang Dinh Nguyen , Decky Aspandi Latif , Titus Zaharia

The standard methods for detecting differential gene expression are mostly designed for analyzing a single gene expression experiment. When data from multiple related gene expression studies are available, separately analyzing each study is…

Methodology · Statistics 2013-11-07 Yingying Wei , Hongkai Ji

Genome-wide gene expression profiles, as measured with microarrays or RNA-Seq experiments, have revolutionized biological and biomedical research by providing a quantitative measure of the entire mRNA transcriptome. Typically, researchers…

Applications · Statistics 2013-08-01 Neil R. Clark , Kevin Hu , Edward Y. Chen , Qioanan Duan , Avi Ma`ayan

There is a critical need for standard approaches to assess, report, and compare the technical performance of genome-scale differential gene expression experiments. We assess technical performance with a proposed "standard" dashboard of…

Many modern biological assays, including RNA sequencing, yield integer-valued counts that reflect the number of molecules detected. These measurements are often not at the desired resolution: while the unit of interest is typically a single…

Machine Learning · Computer Science 2026-03-06 Nic Fishman , Gokul Gowri , Tanush Kumar , Jiaqi Lu , Valentin de Bortoli , Jonathan S. Gootenberg , Omar Abudayyeh

CLIP-seq methods are valuable techniques to experimentally determine transcriptome-wide binding sites of RNA-binding proteins. Despite the constant improvement of such techniques (e.g. eCLIP), the results are affected by various types of…

Biomolecules · Quantitative Biology 2024-12-31 Gianluca Corrado , Michael Uhl , Rolf Backofen , Andrea Passerini , Fabrizio Costa

Studies using assays to quantify the expression of thousands of genes on tens to thousands of cell samples have been carried out for over 20 years. Such assays are based on microarrays, DNA sequencing or other molecular technologies. All…

Statistics Theory · Mathematics 2025-06-18 Jiming Jiang , Johann A. Gagnon-Bartsch , Terence P. Speed

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

Stochastic dynamics of chemical reactions in a mutually repressing two-gene circuit is numerically simulated. The circuit has a rich variety of different states when the kinetic change of DNA status is slow. The stochastic switching…

Disordered Systems and Neural Networks · Physics 2009-11-11 Tomohiro Ushikubo , Wataru Inoue , Mitsumasa Yoda , Masaki Sasai

The goal of a classification model is to assign the correct labels to data. In most cases, this data is not fully described by the given set of labels. Often a rich set of meaningful concepts exist in the domain that can much more precisely…

Machine Learning · Computer Science 2021-08-23 Yoeri Poels , Vlado Menkovski

Unsupervised learning has recently made exceptional progress because of the development of more effective contrastive learning methods. However, CNNs are prone to depend on low-level features that humans deem non-semantic. This dependency…

Computer Vision and Pattern Recognition · Computer Science 2022-01-04 Songwei Ge , Shlok Mishra , Haohan Wang , Chun-Liang Li , David Jacobs
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