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A daunting challenge faced by modern biological sciences is finding an efficient and computationally feasible approach to deal with the curse of high dimensionality. The problem becomes even more severe when the research focus is on…

Methodology · Statistics 2013-04-16 Hung Hung , Yu-Tin Lin , Pengwen Chen , Chen-Chien Wang , Su-Yun Huang , Jung-Ying Tzeng

Recent advancements in machine learning have significantly improved the identification of disease-associated genes from gene expression datasets. However, these processes often require extensive expertise and manual effort, limiting their…

Machine Learning · Computer Science 2025-04-09 Haoyang Liu , Shuyu Chen , Ye Zhang , Haohan Wang

The Cancer Genome Atlas (TCGA) provides researchers with clinicopathological data and genomic characterizations of various carcinomas. These data sets include expression microarrays for genes and microRNAs -- short, non-coding strands of…

Quantitative Methods · Quantitative Biology 2013-07-05 Siddharth G. Reddy , Weimin Xiao , Preethi H. Gunaratne

The Genomic Foundation Model (GFM) paradigm is expected to facilitate the extraction of generalizable representations from massive genomic data, thereby enabling their application across a spectrum of downstream applications. Despite…

Genomics · Quantitative Biology 2024-06-06 Zicheng Liu , Jiahui Li , Siyuan Li , Zelin Zang , Cheng Tan , Yufei Huang , Yajing Bai , Stan Z. Li

We call change-point problem (CPP) the identification of changes in the probabilistic behavior of a sequence of observations. Solving the CPP involves detecting the number and position of such changes. In genetics the study of how and what…

Applications · Statistics 2017-01-18 Murilo S. Pinheiro , Benilton S. Carvalho , Aluísio S. Pinheiro

Biomedical research increasingly relies on integrating diverse data modalities, including gene expression profiles, medical images, and clinical metadata. While medical images and clinical metadata are routinely collected in clinical…

Artificial Intelligence · Computer Science 2026-01-23 Francesca Pia Panaccione , Carlo Sgaravatti , Pietro Pinoli

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

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

Elucidating the genetic basis of human diseases is a central goal of genetics and molecular biology. While traditional linkage analysis and modern high-throughput techniques often provide long lists of tens or hundreds of disease gene…

Quantitative Methods · Quantitative Biology 2011-06-03 Fantine Mordelet , Jean-Philippe Vert

The surge in availability of genomic data holds promise for enabling determination of genetic causes of observed individual traits, with applications to problems such as discovery of the genetic roots of phenotypes, be they molecular…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-04-23 Wayne Joubert , James Nance , Deborah Weighill , Daniel Jacobson

Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

Methodology · Statistics 2013-07-30 Heejung Shim , Matthew Stephens

Genetic Algorithms are a popular set of optimization algorithms often used to aid software testing. However, no work has been done to apply systematic software testing techniques to genetic algorithms because of the stochasticity and the…

Software Engineering · Computer Science 2018-08-06 Janette Rounds , Upulee Kanewala

Graph network science is becoming increasingly popular, notably in big-data perspective where understanding individual entities for individual functional roles is complex and time consuming. It is likely when a set of genes are regulated by…

Genomics · Quantitative Biology 2021-03-11 Abhishek Narain Singh

While the individuals chosen for a genome-wide association study (GWAS) may not be closely related to each other, there can be distant (cryptic) relationships that confound the evidence of disease association. These cryptic relationships…

Quantitative Methods · Quantitative Biology 2016-02-26 Bonnie Kirkpatrick , Alexandre Bouchard-Côté

Gene-gene interactions are often regarded as playing significant roles in influencing variabilities of complex traits. Although much research has been devoted to this area, to date a comprehensive statistical model that addresses the…

Applications · Statistics 2018-04-18 Durba Bhattacharya , Sourabh Bhattacharya

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

Genetic programming is a powerful heuristic search technique that is used for a number of real world applications to solve among others regression, classification, and time-series forecasting problems. A lot of progress towards a theoretic…

Neural and Evolutionary Computing · Computer Science 2013-09-24 Gabriel Kronberger , Stephan Winkler , Michael Affenzeller , Andreas Beham , Stefan Wagner

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

The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…

Genomics · Quantitative Biology 2017-02-22 Hon-Cheong So

Gene interaction graphs aim to capture various relationships between genes and represent decades of biology research. When trying to make predictions from genomic data, those graphs could be used to overcome the curse of dimensionality by…

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