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The application of machine learning to transcriptomics data has led to significant advances in cancer research. However, the high dimensionality and complexity of RNA sequencing (RNA-seq) data pose significant challenges in pan-cancer…

Genomics · Quantitative Biology 2024-08-15 Jong Hyun Kim , Jongseong Jang

By combining various cancer cell line (CCL) drug screening panels, the size of the data has grown significantly to begin understanding how advances in deep learning can advance drug response predictions. In this paper we train >35,000…

Cell type identification from single-cell transcriptomic data is a common goal of single-cell RNA sequencing (scRNAseq) data analysis. Neural networks have been employed to identify cell types from scRNAseq data with high performance.…

Genomics · Quantitative Biology 2020-05-11 Xishuang Dong , Shanta Chowdhury , Uboho Victor , Xiangfang Li , Lijun Qian

Repetitive DNA (repeats) poses significant challenges for accurate and efficient genome assembly and sequence alignment. This is particularly true for metagenomic data, where genome dynamics such as horizontal gene transfer, gene…

Machine Learning · Computer Science 2024-02-15 Ali Azizpour , Advait Balaji , Todd J. Treangen , Santiago Segarra

Gene set analysis, a popular approach for analyzing high-throughput gene expression data, aims to identify sets of related genes that show significantly enriched or depleted expression patterns between different conditions. In the last…

Gene expression microarray technologies provide the simultaneous measurements of a large number of genes. Typical analyses of such data focus on the individual genes, but recent work has demonstrated that evaluating changes in expression…

Applications · Statistics 2010-06-29 Babak Shahbaba , Robert Tibshirani , Catherine M. Shachaf , Sylvia K. Plevritis

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

DNA sequencing to identify genetic variants is becoming increasingly valuable in clinical settings. Assessment of variants in such sequencing data is commonly implemented through Bayesian heuristic algorithms. Machine learning has shown…

Single-cell RNA sequencing (scRNA-seq) data is a potent tool for comprehending the "language of life" and can provide insights into various downstream biomedical tasks. Large-scale language models (LLMs) are starting to be used for cell…

Computational Engineering, Finance, and Science · Computer Science 2023-06-08 Suyuan Zhao , Jiahuan Zhang , Zaiqing Nie

Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

Single-cell RNA sequencing (scRNA-seq) provides unprecedented insights into cellular heterogeneity, enabling detailed analysis of complex biological systems at single-cell resolution. However, the high dimensionality and technical noise…

Genomics · Quantitative Biology 2025-09-04 Hojjat Torabi Goudarzi , Maziyar Baran Pouyan

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

The ability to measure the transcriptomes of single cells has only been feasible for a few years, and is becoming an extremely popular assay. While many types of analysis and questions can be answered using single cell RNA-sequencing, a…

Genomics · Quantitative Biology 2017-08-09 Valentine Svensson , Roser Vento-Tormo , Sarah A Teichmann

As meta-analysis of multiple diagnostic tests impacts clinical decision making and patient health, there is growing interest in statistical models that synthesize evidence from studies comparing multiple diagnostic tests. To compare the…

Methodology · Statistics 2026-05-19 Aristidis K. Nikoloulopoulos

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

Methodology · Statistics 2013-08-14 Nicolas Städler , Sach Mukherjee

Meta-analysis of genome-wide association studies is increasingly popular and many meta-analytic methods have been recently proposed. A majority of meta-analytic methods combine information from multiple studies by assuming that studies are…

Quantitative Methods · Quantitative Biology 2014-01-20 Buhm Han , Jae Hoon Sul , Eleazar Eskin , Paul I. W. de Bakker , Soumya Raychaudhuri

Since its selection as the method of the year in 2013, single-cell technologies have become mature enough to provide answers to complex research questions. With the growth of single-cell profiling technologies, there has also been a…

Single-cell RNA sequencing (scRNA-seq) is widely used to reveal heterogeneity in cells, which has given us insights into cell-cell communication, cell differentiation, and differential gene expression. However, analyzing scRNA-seq data is a…

Machine Learning · Computer Science 2023-06-27 Yuta Hozumi , Gu-Wei Wei

This study investigates the automation of meta-analysis in scientific documents using large language models (LLMs). Meta-analysis is a robust statistical method that synthesizes the findings of multiple studies support articles to provide a…

Computation and Language · Computer Science 2024-11-19 Jawad Ibn Ahad , Rafeed Mohammad Sultan , Abraham Kaikobad , Fuad Rahman , Mohammad Ruhul Amin , Nabeel Mohammed , Shafin Rahman

In the face of rapidly accumulating genomic data, our understanding of the RNA regulatory code remains incomplete. Recent self-supervised methods in other domains have demonstrated the ability to learn rules underlying the data-generating…

Machine Learning · Computer Science 2023-10-18 Philip Fradkin , Ruian Shi , Bo Wang , Brendan Frey , Leo J. Lee