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This dissertation explores the application of machine learning in molecular biology, focusing on gene expression regulation and cellular behavior at the single-cell level. Using modern neural networks, the research addresses key challenges…

Quantitative Methods · Quantitative Biology 2024-10-01 Yongjian Yang

Understanding cell identity and function through single-cell level sequencing data remains a key challenge in computational biology. We present a novel framework that leverages gene-specific textual annotations from the NCBI Gene database…

Genomics · Quantitative Biology 2025-05-14 Douglas Jiang , Zilin Dai , Luxuan Zhang , Qiyi Yu , Haoqi Sun , Feng Tian

The emergence of generative Large Language Models (LLMs) emphasizes the need for accurate and efficient prompting approaches. LLMs are often applied in Few-Shot Learning (FSL) contexts, where tasks are executed with minimal training data.…

Computation and Language · Computer Science 2024-01-24 David Oniani , Jordan Hilsman , Hang Dong , Fengyi Gao , Shiven Verma , Yanshan Wang

Background: Advances in high throughput sequencing technologies provide a huge number of genomes to be analyzed. Thus, computational methods play a crucial role in analyzing and extracting knowledge from the data generated. Investigating…

Computational methods for discovering patterns of local correlations in sequences are important in computational biology. Here we show how to determine the optimal partitioning of aligned sequences into non-overlapping segments such that…

Computational Engineering, Finance, and Science · Computer Science 2012-06-26 Joseph Bockhorst , Nebojsa Jojic

The performance of learning-based algorithms improves with the amount of labelled data used for training. Yet, manually annotating data is particularly difficult for medical image segmentation tasks because of the limited expert…

Computer Vision and Pattern Recognition · Computer Science 2023-09-12 Mélanie Gaillochet , Christian Desrosiers , Hervé Lombaert

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Feature selection aims to identify the most pattern-discriminative feature subset. In prior literature, filter (e.g., backward elimination) and embedded (e.g., Lasso) methods have hyperparameters (e.g., top-K, score thresholding) and tie to…

Machine Learning · Computer Science 2024-03-07 Wangyang Ying , Dongjie Wang , Haifeng Chen , Yanjie Fu

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

Machine learning (ML) approaches have been used to develop highly accurate and efficient applications in many fields including bio-medical science. However, even with advanced ML techniques, cancer classification using gene expression data…

Genomics · Quantitative Biology 2023-05-10 Mahmood Khalsan , Mu Mu , Eman Salih Al-Shamery , Lee Machado , Suraj Ajit , Michael Opoku Agyeman

In recent years, the field of single-cell data analysis has seen a marked advancement in the development of clustering methods. Despite advancements, most of these algorithms still concentrate on analyzing the provided single-cell matrix…

Machine Learning · Computer Science 2023-12-18 Dayu Hu , Ke Liang , Hao Yu , Xinwang Liu

Image-based sequencing of mRNA makes it possible to see where in a tissue sample a given gene is active, and thus discern large numbers of different cell types in parallel. This is crucial for gaining a better understanding of tissue…

Quantitative Methods · Quantitative Biology 2018-02-27 Gabriele Partel , Giorgia Milli , Carolina Wählby

Generative AI foundation models offer transformative potential for processing structured biological data, particularly in single-cell RNA sequencing, where datasets are rapidly scaling toward billions of cells. We propose the use of agentic…

Genomics · Quantitative Biology 2025-06-18 Saleem A. Al Dajani , Abel Sanchez , John R. Williams

Feature selection is a critical task in machine learning and statistics. However, existing feature selection methods either (i) rely on parametric methods such as linear or generalized linear models, (ii) lack theoretical false discovery…

Machine Learning · Statistics 2025-07-18 Omar Melikechi , David B. Dunson , Jeffrey W. Miller

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

Machine Learning · Computer Science 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun

Active Learning is a very common yet powerful framework for iteratively and adaptively sampling subsets of the unlabeled sets with a human in the loop with the goal of achieving labeling efficiency. Most real world datasets have imbalance…

Computer Vision and Pattern Recognition · Computer Science 2022-06-20 Suraj Kothawade , Shivang Chopra , Saikat Ghosh , Rishabh Iyer

The rise of Large Language Models (LLMs) has boosted the use of Few-Shot Learning (FSL) methods in natural language processing, achieving acceptable performance even when working with limited training data. The goal of FSL is to effectively…

We present a novel method for automated identification of putative cell types from single-cell RNA-seq (scRNA-seq) data. By iteratively applying a machine learning approach to an initial clustering of gene expression profiles of a given set…

Quantitative Methods · Quantitative Biology 2020-04-22 Zhichao Miao , Pablo Moreno , Ni Huang , Irene Papatheodorou , Alvis Brazma , Sarah A Teichmann

Gene selection plays a pivotal role in oncology research for improving outcome prediction accuracy and facilitating cost-effective genomic profiling for cancer patients. This paper introduces two gene selection strategies for deep…

Genomics · Quantitative Biology 2024-03-05 Akhila Krishna , Ravi Kant Gupta , Pranav Jeevan , Amit Sethi

We study mathematically a method for discovering which gene is related to a cell phenotype of interest. The method is based on RNA interference -- a molecular process for gene deactivation -- and on coupling the phenotype with fluorescence…

Applications · Statistics 2019-02-20 Yair Goldberg , Yuval Nov
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