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Foundation models for single-cell RNA sequencing (scRNA-seq) have shown promising capabilities in capturing gene expression patterns. However, current approaches face critical limitations: they ignore biological prior knowledge encoded in…

Machine Learning · Computer Science 2025-03-04 Mufan Qiu , Xinyu Hu , Fengwei Zhan , Sukwon Yun , Jie Peng , Ruichen Zhang , Bhavya Kailkhura , Jiekun Yang , Tianlong Chen

RNA-seq allows detection and precise quantification of transcripts, provides comprehensive understanding of exon/intron boundaries, aids discovery of alternatively spliced isoforms and fusion transcripts along with measurement of…

Genomics · Quantitative Biology 2013-06-03 Prachi Jain , Neeraja M. Krishnan , Binay Panda

Over the recent years the importance of numerical experiments has gradually been more recognized. Nonetheless, sufficient documentation of how computational results have been obtained is often not available. Especially in the scientific…

Mathematical Software · Computer Science 2021-05-10 Jörg Fehr , Jan Heiland , Christian Himpe , Jens Saak

Deep sequencing has become one of the most popular tools for transcriptome profiling in biomedical studies. While an abundance of computational methods exists for "normalizing" sequencing data to remove unwanted between-sample variations…

Genomics · Quantitative Biology 2022-01-14 Yannick Düren , Johannes Lederer , Li-Xuan Qin

Inferring gene regulatory networks (GRNs) from single-cell RNA sequencing (scRNA-seq) data is a complex challenge that requires capturing the intricate relationships between genes and their regulatory interactions. In this study, we tackle…

Machine Learning · Computer Science 2024-07-26 Sindhura Kommu , Yizhi Wang , Yue Wang , Xuan Wang

An important challenge in cancer systems biology is to uncover the complex network of interactions between genes (tumor suppressor genes and oncogenes) implicated in cancer. Next generation sequencing provides unparalleled ability to probe…

Genomics · Quantitative Biology 2012-12-10 Ying Cai , Bernard Fendler , Gurinder S. Atwal

The use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

Single-stranded libraries generated from ancient DNA extracts have specific sequencing requirements. The short library molecules typically associated with ancient DNA templates are expected to behave differently during the annealing to the…

Other Quantitative Biology · Quantitative Biology 2017-11-30 Johanna L. A. Paijmans , Sina Baleka , Kirstin Henneberger , Ulrike H. Taron , Alexandra Trinks , Michael V. Westbury , Axel Barlow

Recent developments in synthetic biology, next-generation sequencing, and machine learning provide an unprecedented opportunity to rationally design new disease treatments based on measured responses to gene perturbations and drugs to…

Molecular Networks · Quantitative Biology 2024-03-12 Thomas P. Wytock , Adilson E. Motter

RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing may be involved in malfunctions at…

Applications · Statistics 2015-12-11 David Rossell , Camille Stephan-Otto Attolini , Manuel Kroiss , Almond Stöcker

The RNA-sequencing (RNA-seq) is becoming increasingly popular for quantifying gene expression levels. Since the RNA-seq measurements are relative in nature, between-sample normalization of counts is an essential step in differential…

Methodology · Statistics 2016-10-14 Kefei Liu , Jieping Ye , Yang Yang , Li Shen , Hui Jiang

Although reproducibility is a core tenet of the scientific method, it remains challenging to reproduce many results. Surprisingly, this also holds true for computational results in domains such as systems biology where there have been…

Quantitative Methods · Quantitative Biology 2021-04-13 Michael L. Blinov , John H. Gennari , Jonathan R. Karr , Ion I. Moraru , David P. Nickerson , Herbert M. Sauro

Accurately inferring the root causes of disease from sequencing data can improve the discovery of novel therapeutic targets. However, existing root causal inference algorithms require perfectly measured continuous random variables. Single…

Genomics · Quantitative Biology 2023-07-12 Eric V. Strobl

Recent advances in high-resolution sequencing have paved the way for population-scale analysis in single-cell RNA-sequencing (scRNA-seq) data. scRNA-seq data, in particular, have proven to be extremely powerful in profiling a variety of…

Methodology · Statistics 2025-10-30 Hanxuan Ye , Zachary Qian , Hongzhe Li

Single-cell technologies are revolutionizing the entire field of biology. The large volumes of data generated by single-cell technologies are high-dimensional, sparse, heterogeneous, and have complicated dependency structures, making…

Cell populations are never truly homogeneous; individual cells exist in biochemical states that define functional differences between them. New technology based on microfluidic arrays combined with multiplexed quantitative polymerase chain…

Motivation: Single cell RNA sequencing (scRNA-seq) data makes studying the development of cells possible at unparalleled resolution. Given that many cellular differentiation processes are hierarchical, their scRNA-seq data is expected to be…

Quantitative Methods · Quantitative Biology 2022-04-25 Quentin Garrido , Sebastian Damrich , Alexander Jäger , Dario Cerletti , Manfred Claassen , Laurent Najman , Fred Hamprecht

The existence of doublets is a key confounder in single-cell RNA sequencing (scRNA-seq) data analysis. Computational methods have been developed for detecting doublets from scRNA-seq data. We developed an R package DoubletCollection to…

Genomics · Quantitative Biology 2021-12-01 Nan Miles Xi , Jingyi Jessica Li

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

Computational reproducibility is a growing problem that has been extensively studied among computational researchers and within the signal processing and machine learning research community. However, with the changing landscape of signal…

Signal Processing · Electrical Eng. & Systems 2022-02-16 Joseph Shenouda , Waheed U. Bajwa