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A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…

Genomics · Quantitative Biology 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

Identifying cancer driver genes is crucial for understanding tumor biology and developing precision therapies. However, existing computational methods often rely on single biological networks or population-level mutation patterns, limiting…

Quantitative Methods · Quantitative Biology 2026-01-06 Xueqing Xu , Yonghang Gao , Duanchen Sun , Ling-Yun Wu

Recent breakthroughs in cancer research have come via the up-and-coming field of pathway analysis. By applying statistical methods to prior known gene and protein regulatory information, pathway analysis provides a meaningful way to…

Genomics · Quantitative Biology 2017-10-11 Yue Zhao

Disease occurs due to aberrant expression of genes and modulation of the biological pathways along which they lie. Inference of activated gene pathways, using gene expression data during disease progression, is an important problem. In this…

Genomics · Quantitative Biology 2012-08-27 Arvind Rao , Alfred O. Hero , III

Rapid advances in high-throughput technologies have led to considerable interest in analyzing genome-scale data in the context of biological pathways, with the goal of identifying functional systems that are involved in a given phenotype.…

Quantitative Methods · Quantitative Biology 2015-06-01 Rosemary Braun , Sahil Shah

Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…

Quantitative Methods · Quantitative Biology 2020-04-13 Thomas Gaudelet , Noel Malod-Dognin , Jon Sanchez-Valle , Vera Pancaldi , Alfonso Valencia , Natasa Przulj

Cancer disease occurs because of a disorder in the cellular regulatory mechanism, Which causes cellular malformation. The genes that start the malformation are called Cancer driver genes (CDGs) . Numerous computational methods have been…

Molecular Networks · Quantitative Biology 2020-12-16 Mostafa Akhavan Safar , Babak Teimourpour , Mehrdad Kargari

Gene expression-based heterogeneity analysis has been extensively conducted. In recent studies, it has been shown that network-based analysis, which takes a system perspective and accommodates the interconnections among genes, can be more…

Methodology · Statistics 2023-08-09 Rong Li , Qingzhao Zhang , Shuangge Ma

Profiling of whole transcriptomes has become a cornerstone of molecular biology and an invaluable tool for the characterization of clinical phenotypes and the identification of disease subtypes. Analyses of these data are becoming ever more…

Molecular Networks · Quantitative Biology 2021-01-12 Deborah Weighill , Marouen Ben Guebila , Kimberly Glass , John Platig , Jen Jen Yeh , John Quackenbush

Cellular response to a perturbation is the result of a dynamic system of biological variables linked in a complex network. A major challenge in drug and disease studies is identifying the key factors of a biological network that are…

Applications · Statistics 2014-09-02 Lisa M. Pham , Luis Carvalho , Scott Schaus , Eric D. Kolaczyk

In tumoral cells, gene regulation mechanisms are severely altered, and these modifications in the regulations may be characteristic of different subtypes of cancer. However, these alterations do not necessarily induce differential…

Transcriptomic data is a treasure-trove in modern molecular biology, as it offers a comprehensive viewpoint into the intricate nuances of gene expression dynamics underlying biological systems. This genetic information must be utilised to…

Molecular Networks · Quantitative Biology 2023-12-13 Vikram Singh , Vikram Singh

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

Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…

Methodology · Statistics 2021-01-11 Xing Qin , Shuangge Ma , Mengyun Wu

Reconstruction of gene regulatory networks is the process of identifying gene dependency from gene expression profile through some computation techniques. In our human body, though all cells pose similar genetic material but the activation…

Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and pathway identification using DNA language model, graph…

Quantitative Methods · Quantitative Biology 2024-11-12 Ali Saadat , Jacques Fellay

The main goal of Systems Biology research is to reconstruct biological networks for its topological analysis so that reconstructed networks can be used for the identification of various kinds of disease. The availability of high-throughput…

Systems and Control · Computer Science 2013-07-02 Khalid Raza , Rajni Jaiswal

We propose a methodology for the identification of transcription factors involved in the deregulation of genes in tumoral cells. This strategy is based on the inference of a reference gene regulatory network that connects transcription…

Molecular Networks · Quantitative Biology 2020-04-20 Magali Champion , Julien Chiquet , Pierre Neuvial , Mohamed Elati , François Radvanyi , Etienne Birmelé

Motivation. Cancer heterogeneity is observed at multiple biological levels. To improve our understanding of these differences and their relevance in medicine, approaches to link organ- and tissue-level information from diagnostic images and…

Quantitative Methods · Quantitative Biology 2020-05-19 Nova F. Smedley , Suzie El-Saden , William Hsu

A system level view of cellular processes for human and several organisms can be cap- tured by analyzing molecular interaction networks. A molecular interaction network formed of differentially expressed genes and their interactions helps…

Molecular Networks · Quantitative Biology 2016-11-09 Jeethu V. Devasia , Priya Chandran
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