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Research on the localization of the genetic basis associated with diseases or traits has been widely conducted in the last a few decades. Scan methods have been developed for region-based analysis in whole-genome association studies,…

Methodology · Statistics 2024-10-31 Wei Zhang , Fan Wang , Fang Yao

We present a new modelling approach for longitudinal count data that is motivated by the increasing availability of longitudinal RNA-sequencing experiments. The distribution of RNA-seq counts typically exhibits overdispersion,…

Methodology · Statistics 2020-08-27 Mirko Signorelli , Pietro Spitali , Roula Tsonaka

Until recently, transcriptomics was limited to bulk RNA sequencing, obscuring the underlying expression patterns of individual cells in favor of a global average. Thanks to technological advances, we can now profile gene expression across…

Quantitative Methods · Quantitative Biology 2018-11-30 Miriam Shiffman , William T. Stephenson , Geoffrey Schiebinger , Jonathan Huggins , Trevor Campbell , Aviv Regev , Tamara Broderick

Single-cell RNA sequencing (scRNA-seq) provides a high throughput, quantitative and unbiased framework for scientists in many research fields to identify and characterize cell types within heterogeneous cell populations from various…

Quantitative Methods · Quantitative Biology 2022-09-28 Yeganeh Madadi , Aboozar Monavarfeshani , Hao Chen , W. Daniel Stamer , Robert W. Williams , Siamak Yousefi

DNA nanotechnology promises to provide controllable self-assembly on the nanoscale, allowing for the design of static structures, dynamic machines and computational architectures. In this article I review the state-of-the art of DNA…

Soft Condensed Matter · Physics 2015-07-13 Thomas E. Ouldridge

A number of bioinformatic or biostatistical methods are available for analyzing DNA copy number profiles measured from microarray or sequencing technologies. In the absence of rich enough gold standard data sets, the performance of these…

Quantitative Methods · Quantitative Biology 2015-11-06 Morgane Pierre-Jean , Guillem Rigaill , Pierre Neuvial

Machine learning can precisely identify different cancer tumors at any stage by classifying cancerous and healthy samples based on their genomic profile. We have developed novel methods of MLAC (Machine Learning Against Cancer) achieving…

Genomics · Quantitative Biology 2020-09-15 Arash Hooshmand

In cancer research, the comparison of gene expression or DNA methylation networks inferred from healthy controls and patients can lead to the discovery of biological pathways associated to the disease. As a cancer progresses, its signalling…

Methodology · Statistics 2015-06-17 Da Ruan , Alastair Young , Giovanni Montana

Glioblastoma is a highly aggressive form of brain cancer characterized by rapid progression and poor prognosis. Despite advances in treatment, the underlying genetic mechanisms driving this aggressiveness remain poorly understood. In this…

Quantitative Methods · Quantitative Biology 2025-05-20 Ahmad Berjaoui , Louis Roussel , Eduardo Hugo Sanchez , Elizabeth Cohen-Jonathan Moyal

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu

The high-throughput short-reads RNA-seq protocols often produce paired-end reads, with the middle portion of the fragments being unsequenced. We explore if the full-length fragments can be computationally reconstructed from the sequenced…

Genomics · Quantitative Biology 2023-10-06 Xiang Li , Mingfu Shao

According to the National Cancer Institute, there were 9.5 million cancer-related deaths in 2018. A challenge in improving treatment is resistance in genetically unstable cells. The purpose of this study is to evaluate unsupervised machine…

Genomics · Quantitative Biology 2021-08-12 Anastasia Dunca , Frederick R. Adler

Benefiting from the advancements in deep learning, various genomic analytical techniques, such as survival analysis, classification of tumors and their subtypes, and exploration of specific pathways, have significantly enhanced our…

Machine Learning · Computer Science 2023-12-19 Xiangyu Meng , Xue Li , Qing Yang , Huanhuan Dai , Lian Qiao , Hongzhen Ding , Long Hao , Xun Wang

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 telegraph model is the standard model of stochastic gene expression, which can be solved exactly to obtain the distribution of mature RNA numbers per cell. A modification of this model also leads to an analytical distribution of the…

Subcellular Processes · Quantitative Biology 2023-08-17 Juraj Szavits-Nossan , Ramon Grima

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

Natural systems with emergent behaviors often organize along low-dimensional subsets of high-dimensional spaces. For example, despite the tens of thousands of genes in the human genome, the principled study of genomics is fruitful because…

Multi-sequence MRIs can be necessary for reliable diagnosis in clinical practice due to the complimentary information within sequences. However, redundant information exists across sequences, which interferes with mining efficient…

Computer Vision and Pattern Recognition · Computer Science 2023-02-02 Luyi Han , Tao Tan , Tianyu Zhang , Yunzhi Huang , Xin Wang , Yuan Gao , Jonas Teuwen , Ritse Mann

Spatial transcriptomics is a technology that captures gene expression levels at different spatial locations, widely used in tumor microenvironment analysis and molecular profiling of histopathology, providing valuable insights into…

Computer Vision and Pattern Recognition · Computer Science 2025-06-11 Junzhuo Liu , Markus Eckstein , Zhixiang Wang , Friedrich Feuerhake , Dorit Merhof

Cancer is a complex disease driven by genomic alterations, and tumor sequencing is becoming a mainstay of clinical care for cancer patients. The emergence of multi-institution sequencing data presents a powerful resource for learning…

Genomics · Quantitative Biology 2024-10-31 Yuan Chen , Ronglai Shen , Xiwen Feng , Katherine Panageas
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