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RNA-Seq technology allows for studying the transcriptional state of the cell at an unprecedented level of detail. Beyond quantification of whole-gene expression, it is now possible to disentangle the abundance of individual alternatively…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

Biological data may be separated into primary data, such as gene expression, and secondary data, such as pathways and protein-protein interactions. Methods using secondary data to enhance the analysis of primary data are promising, because…

Quantitative Methods · Quantitative Biology 2023-07-03 Kazuma Inoue , Ryosuke Kojima , Mayumi Kamada , Yasushi Okuno

The emergence and development of cancer is a consequence of the accumulation over time of genomic mutations involving a specific set of genes, which provides the cancer clones with a functional selective advantage. In this work, we model…

Machine Learning · Computer Science 2017-03-10 Daniele Ramazzotti , Marco S. Nobile , Paolo Cazzaniga , Giancarlo Mauri , Marco Antoniotti

One of the outstanding challenges in comparative genomics is to interpret the evolutionary importance of regulatory variation between species. Rigorous molecular evolution-based methods to infer evidence for natural selection from…

Populations and Evolution · Quantitative Biology 2013-10-16 Joshua G. Schraiber , Yulia Mostovoy , Tiffany Y. Hsu , Rachel B. Brem

To interpret the genetic profile present in a patient sample, it is necessary to know which mutations have important roles in the development of the corresponding cancer type. Named entity recognition is a core step in the text mining…

Computation and Language · Computer Science 2021-06-16 Jiarun Cao , Elke M van Veen , Niels Peek , Andrew G Renehan , Sophia Ananiadou

Gene expression data represents a unique challenge in predictive model building, because of the small number of samples $(n)$ compared to the huge amount of features $(p)$. This "$n<<p$" property has hampered application of deep learning…

Machine Learning · Statistics 2018-02-13 Yunchuan Kong , Tianwei Yu

In this paper, we propose a new method remMap -- REgularized Multivariate regression for identifying MAster Predictors -- for fitting multivariate response regression models under the high-dimension-low-sample-size setting. remMap is…

Applications · Statistics 2009-06-19 Jie Peng , Ji Zhu , Anna Bergamaschi , Wonshik Han , Dong-Young Noh , Jonathan R. Pollack , Pei Wang

In cell differentiation, a cell of a less specialized type becomes one of a more specialized type, even though all cells have the same genome. Transcription factors and epigenetic marks like histone modifications can play a significant role…

Quantitative Methods · Quantitative Biology 2013-07-31 Nishanth Ulhas Nair , Yu Lin , Philipp Bucher , Bernard M. E. Moret

Gene expression datasets offer insights into gene regulation mechanisms, biochemical pathways, and cellular functions. Additionally, comparing gene expression profiles between disease and control patients can deepen the understanding of…

Machine Learning · Computer Science 2025-03-27 Rita T. Sousa , Heiko Paulheim

Gene expression profiles obtained through DNA microarray have proven successful in providing critical information for cancer detection classifiers. However, the limited number of samples in these datasets poses a challenge to employ complex…

Machine Learning · Computer Science 2024-08-20 Arya Hadizadeh Moghaddam , Mohsen Nayebi Kerdabadi , Cuncong Zhong , Zijun Yao

Molecular phenotyping by gene expression profiling is common in contemporary cancer research and in molecular diagnostics. However, molecular profiling remains costly and resource intense to implement, and is just starting to be introduced…

Computer Vision and Pattern Recognition · Computer Science 2023-09-04 Philippe Weitz , Yinxi Wang , Kimmo Kartasalo , Lars Egevad , Johan Lindberg , Henrik Grönberg , Martin Eklund , Mattias Rantalainen

Mining gene expression profiles has proven valuable for identifying signatures serving as surrogates of cancer phenotypes. However, the similarities of such signatures across different cancer types have not been strong enough to conclude…

Genomics · Quantitative Biology 2020-01-01 Yingcheng Sun , Xiangru Liang , Kenneth Loparo

Current computational methods for exon-intron structure prediction from a cluster of transcript (EST, mRNA) data do not exhibit the time and space efficiency necessary to process large clusters of over than 20,000 ESTs and genes longer than…

Genomics · Quantitative Biology 2010-05-11 Paola Bonizzoni , Gianluca Della Vedova , Yuri Pirola , Raffaella Rizzi

In genome-scale constraint-based metabolic models, gene deletion strategies are essential for achieving growth-coupled production, where cell growth and target metabolite synthesis occur simultaneously. Despite the inherently networked…

Quantitative Methods · Quantitative Biology 2026-04-10 Ziwei Yang , Takeyuki Tamura

Building prediction models for outcomes of clinical relevance when only a limited number of mutational features are available causes considerable challenges due to the sparseness and low-dimensionality of the data. In this article, we…

Genomics · Quantitative Biology 2022-12-13 Maya Ramchandran , Maayan Baron

Machine Learning (ML) alleviates the challenges of high-dimensional data analysis and improves decision making in critical applications like healthcare. Effective cancer type from high-dimensional genetic mutation data can be useful for…

Cryptography and Security · Computer Science 2022-04-13 Esha Sarkar , Eduardo Chielle , Gamze Gursoy , Leo Chen , Mark Gerstein , Michail Maniatakos

High throughput mRNA expression profiling can be used to characterize the response of cell culture models to perturbations such as pharmacologic modulators and genetic perturbations. As profiling campaigns expand in scope, it is important…

Genomics · Quantitative Biology 2017-04-12 Tracey Filzen , Peter Kutchukian , Jeffrey Hermes , Jing Li , Matthew Tudor

Epigenetic modifications to histones may promote either activation or repression of the transcription of nearby genes. Recent experimental studies show that the promoters of many lineage-control genes in stem cells have "bivalent domains"…

Genomics · Quantitative Biology 2013-06-12 Wai Lim Ku , Michelle Girvan , Guo-Cheng Yuan , Francesco Sorrentino , Edward Ott

In many applications, data can be heterogeneous in the sense of spanning latent groups with different underlying distributions. When predictive models are applied to such data the heterogeneity can affect both predictive performance and…

Machine Learning · Statistics 2022-05-04 Thomas Lartigue , Sach Mukherjee

The rapidly emerging field of deep learning-based computational pathology has demonstrated promise in developing objective prognostic models from histology whole slide images. However, most prognostic models are either based on histology or…

Computer Vision and Pattern Recognition · Computer Science 2021-08-06 Richard J. Chen , Ming Y. Lu , Drew F. K. Williamson , Tiffany Y. Chen , Jana Lipkova , Muhammad Shaban , Maha Shady , Mane Williams , Bumjin Joo , Zahra Noor , Faisal Mahmood