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Gene regulatory networks (GRNs) represent the causal relationships between transcription factors (TFs) and target genes in single-cell RNA sequencing (scRNA-seq) data. Understanding these networks is crucial for uncovering disease…

Artificial Intelligence · Computer Science 2024-10-22 Tejumade Afonja , Ivaxi Sheth , Ruta Binkyte , Waqar Hanif , Thomas Ulas , Matthias Becker , Mario Fritz

Given the complexity of genetic risk prediction, there is a critical need for the development of novel methodologies that can effectively capture intricate genotype--phenotype relationships (e.g., nonlinear) while remaining statistically…

Applications · Statistics 2025-10-03 Heng Ge , Qing Lu

There are many instances in genetics in which we wish to determine whether two candidate populations are distinguishable on the basis of their genetic structure. Examples include populations which are geographically separated, case--control…

Quantitative Methods · Quantitative Biology 2015-05-20 M. Bridges , E. A. Heron , C. O'Dushlaine , R. Segurado , The International Schizophrenia Consortium , D. Morris , A. Corvin , M. Gill , C. Pinto

The discovery of genomic polymorphisms influencing gene expression (also known as expression quantitative trait loci or eQTLs) can be formulated as a sparse Bayesian multivariate/multiple regression problem. An important aspect in the…

Genomics · Quantitative Biology 2019-06-13 Dimitrios V Vavoulis

Pathogenic infections pose a significant threat to global health, affecting millions of people every year and presenting substantial challenges to healthcare systems worldwide. Efficient and timely testing plays a critical role in disease…

Quantitative Methods · Quantitative Biology 2023-08-03 Ananthan Nambiar , Chao Pan , Vishal Rana , Mahdi Cheraghchi , João Ribeiro , Sergei Maslov , Olgica Milenkovic

The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment…

Other Computer Science · Computer Science 2017-05-10 Layan Nahlawi

Identifying concentrations of components from an observed mixture is a fundamental problem in signal processing. It has diverse applications in fields ranging from hyperspectral imaging to denoising biomedical sensors. This paper focuses on…

Computational Engineering, Finance, and Science · Computer Science 2016-11-17 Shahin Mohammadi , Neta Zuckerman , Andrea Goldsmith , Ananth Grama

Temporal gene expression data (Wen, et. al.) was analyzed using the recently introduced inverse modeling technique of Embedded Complex Logistic Maps (ECLM). Preliminary results indicate scale-free structure in the gene regulatory network…

Disordered Systems and Neural Networks · Physics 2007-05-23 Sandy Shaw

Next generation sequencing technology rapidly produces massive volume of data and quality control of this sequencing data is essential to any genomic analysis. Here we present MEEPTOOLS, which is a collection of open-source tools based on…

Genomics · Quantitative Biology 2015-12-11 Vishal N. Koparde , Hardik I. Parikh , Steven P. Bradley , Nihar U. Sheth

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

Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

Genomics · Quantitative Biology 2007-05-23 Zhong Li , Aris Floratos , David Wang , Andrea Califano

DNA Methylation has been the most extensively studied epigenetic mark. Usually a change in the genotype, DNA sequence, leads to a change in the phenotype, observable characteristics of the individual. But DNA methylation, which happens in…

Genomics · Quantitative Biology 2018-07-26 Soham Chatterjee , Archana Iyer , Satya Avva , Abhai Kollara , Malaikannan Sankarasubbu

Spatial transcriptomics (ST) provides essential spatial context by mapping gene expression within tissue, enabling detailed study of cellular heterogeneity and tissue organization. However, aligning ST data with histology images poses…

High-throughput phenotyping, the automated mapping of patient signs and symptoms to standardized ontology concepts, is essential to gaining value from electronic health records (EHR) in the support of precision medicine. Despite…

Artificial Intelligence · Computer Science 2024-06-24 Syed I. Munzir , Daniel B. Hier , Chelsea Oommen , Michael D. Carrithers

One of the notable fields in studying the genetics of cancer is disease gene identification which affects disease treatment and drug discovery. Many researches have been done in this field. Genome-wide association studies (GWAS) are one of…

Computational Engineering, Finance, and Science · Computer Science 2016-04-27 Zahra Razaghi-Moghadama , Razieh Abdollahia , Sama Goliaeib , Morteza Ebrahimia

Replicability is central to scientific progress, and the partial conjunction (PC) hypothesis testing framework provides an objective tool to quantify it across disciplines. Existing PC methods assume independent studies. Yet many modern…

Methodology · Statistics 2025-12-30 Monitirtha Dey , Trambak Banerjee , Prajamitra Bhuyan , Arunabha Majumdar

In Natural Language Processing (NLP), it is important to detect the relationship between two sequences or to generate a sequence of tokens given another observed sequence. We call the type of problems on modelling sequence pairs as sequence…

Computation and Language · Computer Science 2018-10-26 Lei Yu

Motivation: Modules in gene coexpression networks (GCN) can be regarded as gene groups with individual relationships. No studies have optimized module detection methods to extract diverse gene groups from GCN, especially for data from…

Molecular Networks · Quantitative Biology 2021-12-07 Iori Azuma , Tadahaya Mizuno , Hiroyuki Kusuhara

Cancers are characterized by remarkable heterogeneity and diverse prognosis. Accurate cancer classification is essential for patient stratification and clinical decision-making. Although digital pathology has been advancing cancer diagnosis…

Computer Vision and Pattern Recognition · Computer Science 2025-02-13 Xiaofei Wang , Hanyu Liu , Yupei Zhang , Boyang Zhao , Hao Duan , Wanming Hu , Yonggao Mou , Stephen Price , Chao Li

We propose a method for gene expression based analysis of cancer phenotypes incorporating network biology knowledge through unsupervised construction of computational graphs. The structural construction of the computational graphs is driven…

Molecular Networks · Quantitative Biology 2020-10-02 Paul Scherer , Maja Trȩbacz , Nikola Simidjievski , Zohreh Shams , Helena Andres Terre , Pietro Liò , Mateja Jamnik