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The intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing…

Quantitative Methods · Quantitative Biology 2024-01-19 Jiayu Chang , Shiyu Wang , Chen Ling , Zhaohui Qin , Liang Zhao

High throughput technologies have become the practice of choice for comparative studies in biomedical applications. Limited number of sample points due to sequencing cost or access to organisms of interest necessitates the development of…

Methodology · Statistics 2018-07-17 Ariana Broumand , Siamak Zamani Dadaneh

The rapid advance of DNA sequencing technologies has yielded databases of thousands of genomes. To search and index these databases effectively, it is important that we take advantage of the similarity between those genomes. Several authors…

Data Structures and Algorithms · Computer Science 2014-12-05 Travis Gagie , Simon J. Puglisi

In recent years, several machine learning approaches have been proposed to predict gene expression and epigenetic signals from the DNA sequence alone. These models are often used to deduce, and, to some extent, assess putative new…

Genomics · Quantitative Biology 2023-04-26 Laurent Bréhélin

Person re-identification is indeed a challenging visual recognition task due to the critical issues of human pose variation, human body occlusion, camera view variation, etc. To address this, most of the state-of-the-art approaches are…

Computer Vision and Pattern Recognition · Computer Science 2018-07-31 Fu Xiong , Yang Xiao , Zhiguo Cao , Kaicheng Gong , Zhiwen Fang , Joey Tianyi Zhou

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

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

In this work we seek clusters of genomic words in human DNA by studying their inter-word lag distributions. Due to the particularly spiked nature of these histograms, a clustering procedure is proposed that first decomposes each…

Applications · Statistics 2021-01-13 Ana Helena Tavares , Jakob Raymaekers , Peter J. Rousseeuw , Paula Brito , Vera Afreixo

We aim to improve segmentation through the use of machine learning tools during region agglomeration. We propose an active learning approach for performing hierarchical agglomerative segmentation from superpixels. Our method combines…

Computer Vision and Pattern Recognition · Computer Science 2015-03-13 Juan Nunez-Iglesias , Ryan Kennedy , Toufiq Parag , Jianbo Shi , Dmitri B. Chklovskii

As a basic task of multi-camera surveillance system, person re-identification aims to re-identify a query pedestrian observed from non-overlapping multiple cameras or across different time with a single camera. Recently, deep learning-based…

Computer Vision and Pattern Recognition · Computer Science 2019-03-13 Di Wu , Kun Zhang , Fei Cheng , Yang Zhao , Qi Liu , Chang-An Yuan , De-Shuang Huang

Conventional and deep learning-based methods have shown great potential in the medical imaging domain, as means for deriving diagnostic, prognostic, and predictive biomarkers, and by contributing to precision medicine. However, these…

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

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

Background: Several sources of noise obfuscate the identification of single nucleotide variation (SNV) in next generation sequencing data. For instance, errors may be introduced during library construction and sequencing steps. In addition,…

Genomics · Quantitative Biology 2015-03-05 Steve Hoffmann , Peter F. Stadler , Korbinian Strimmer

Over the long history of machine learning, which dates back several decades, recurrent neural networks (RNNs) have been used mainly for sequential data and time series and generally with 1D information. Even in some rare studies on 2D…

Computer Vision and Pattern Recognition · Computer Science 2021-03-05 Nguyen Huu Phong , Bernardete Ribeiro

We propose a new approach for clustering DNA features using array CGH data from multiple tumor samples. We distinguish data-collapsing: joining contiguous DNA clones or probes with extremely similar data into regions, from clustering:…

Applications · Statistics 2010-12-21 Kyung In Kim , Etienne Roquain , Mark Van De Wiel

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

Deep neural networks (DNN) have been used successfully in many scientific problems for their high prediction accuracy, but their application to genetic studies remains challenging due to their poor interpretability. In this paper, we…

Machine Learning · Computer Science 2021-10-01 Peyman H. Kassani , Fred Lu , Yann Le Guen , Zihuai He

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

Genome sequencing technology has improved significantly in few last years and resulted in abundance genetic data. Artificial intelligence has been employed to analyze genetic data in response to its sheer size and variability. Gene…

Genomics · Quantitative Biology 2023-03-17 Muhammad Anwari Leksono , Ayu Purwarianti