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Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases. A key step is calling an individual's genotype from the multiple aligned short read…

Applications · Statistics 2012-06-29 Baiyu Zhou , Alice S. Whittemore

Genome sequence analysis plays a pivotal role in enabling many medical and scientific advancements in personalized medicine, outbreak tracing, and forensics. However, the analysis of genome sequencing data is currently bottlenecked by the…

Hardware Architecture · Computer Science 2021-11-04 Damla Senol Cali

Recognizing subtle historical patterns is central to modeling and forecasting problems in time series analysis. Here we introduce and develop a new approach to quantify deviations in the underlying hidden generators of observed data…

Machine Learning · Statistics 2019-10-09 Yi Huang , Ishanu Chattopadhyay

Machine learning model genealogy enables practitioners to determine which architectural family a neural network belongs to. In this paper, we introduce ShadowGenes, a novel, signature-based method for identifying a given model's…

Machine Learning · Computer Science 2025-01-22 Kasimir Schulz , Kieran Evans

We propose a novel method to cluster gene networks. Based on a dissimilarity built using correlation structures, we consider networks that connect all the genes based on the strength of their dissimilarity. The large number of genes require…

Statistics Theory · Mathematics 2016-07-07 A-C Brunet , J-M Azais , J-M Loubes , J Amar , R Burcelin

Accurate cell type annotation is a crucial step in analyzing single-cell RNA sequencing (scRNA-seq) data, which provides valuable insights into cellular heterogeneity. However, due to the high dimensionality and prevalence of zero elements…

Machine Learning · Computer Science 2025-08-14 Huifa Li , Jie Fu , Xinlin Zhuang , Haolin Yang , Xinpeng Ling , Tong Cheng , Haochen xue , Imran Razzak , Zhili Chen

Classifying genome sequences based on metadata has been an active area of research in comparative genomics for decades with many important applications across the life sciences. Established methods for classifying genomes can be broadly…

Genomics · Quantitative Biology 2025-01-17 Wan He , Tina Eliassi-Rad , Samuel V. Scarpino

The purpose of cancer genome sequencing studies is to determine the nature and types of alterations present in a typical cancer and to discover genes mutated at high frequencies. In this article we discuss statistical methods for the…

Applications · Statistics 2011-07-26 Lorenzo Trippa , Giovanni Parmigiani

We propose a novel method to detect identity cloning of social-sensor cloud service providers to prevent the detrimental outcomes caused by identity deception. This approach leverages non-privacy-sensitive user profile data gathered from…

Social and Information Networks · Computer Science 2021-10-22 Ahmed Alharbi , Hai Dong , Xun Yi , Prabath Abeysekara

Detecting genetic aberrations is crucial in cancer diagnosis, typically through fluorescence in situ hybridization (FISH). However, existing FISH image classification methods face challenges due to signal variability, the need for costly…

Computer Vision and Pattern Recognition · Computer Science 2024-11-05 Simon Gutwein , Martin Kampel , Sabine Taschner-Mandl , Roxane Licandro

Code clones are similar code fragments that often arise from copy-and-paste programming. Neural networks can classify pairs of code fragments as clone/not-clone with high accuracy. However, finding clones in industrial-scale code needs a…

Software Engineering · Computer Science 2025-04-28 Gul Aftab Ahmed , Muslim Chochlov , Abdul Razzaq , James Vincent Patten , Yuanhua Han , Guoxian Lu , Jim Buckley , David Gregg

Complexity metrics and machine learning (ML) models have been utilized to analyze the lengths of segmental genomic entities like: exons, introns, intergenic and repeat/unique DNA sequences, in each of the 22 human chromosomes. The purpose…

Single-cell RNA sequencing (scRNA-seq) technology enables systematic delineation of cellular states and interactions, providing crucial insights into cellular heterogeneity. Building on this potential, numerous computational methods have…

Genomics · Quantitative Biology 2025-11-11 Ping Xu , Zaitian Wang , Zhirui Wang , Pengjiang Li , Ran Zhang , Gaoyang Li , Hanyu Xie , Jiajia Wang , Yuanchun Zhou , Pengfei Wang

Cell functional diversity is a significant determinant on how biological processes unfold. Most accounts of diversity involve a search for sequence or expression differences. Perhaps there are more subtle mechanisms at work. Using the…

Quantitative Methods · Quantitative Biology 2013-11-05 Bradly Alicea

Mathematical methods together with measurements of single-cell dynamics provide unprecedented means to reconstruct intracellular processes that are only partly or indirectly accessible experimentally. To obtain reliable reconstructions the…

Quantitative Methods · Quantitative Biology 2014-01-14 Christoph Zechner , Michael Unger , Serge Pelet , Matthias Peter , Heinz Koeppl

Sequential data is everywhere, and it can serve as a basis for research that will lead to improved processes. For example, road infrastructure can be improved by identifying bottlenecks in GPS data, or early diagnosis can be improved by…

Cryptography and Security · Computer Science 2020-02-25 Sigal Shaked , Lior Rokach

When an individual's DNA is sequenced, sensitive medical information becomes available to the sequencing laboratory. A recently proposed way to hide an individual's genetic information is to mix in DNA samples of other individuals. We…

Information Theory · Computer Science 2024-11-05 Kayvon Mazooji , Roy Dong , Ilan Shomorony

Splice sites play a crucial role in gene expression, and accurate prediction of these sites in DNA sequences is essential for diagnosing and treating genetic disorders. We address the challenge of splice site prediction by introducing…

Genomics · Quantitative Biology 2023-11-23 Asmita Poddar , Vladimir Uzun , Elizabeth Tunbridge , Wilfried Haerty , Alejo Nevado-Holgado

Generative Adversarial Networks (GANs) have significantly advanced image synthesis, however, the synthesis quality drops significantly given a limited amount of training data. To improve the data efficiency of GAN training, prior work…

Computer Vision and Pattern Recognition · Computer Science 2021-06-09 Ceyuan Yang , Yujun Shen , Yinghao Xu , Bolei Zhou

Non protein coding regions of the human genome contain many complex patterns which regulate the cellular activity. Studying the human genome is limited by the lack of understanding of its features and their complex interactions. However,…

Genomics · Quantitative Biology 2017-08-15 Kerim Arioglu , Umut Eser
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