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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

Hierarchical models are a powerful tool for high-throughput data with a small to moderate number of replicates, as they allow sharing information across units of information, for example, genes. We propose two such models and show its…

Applications · Statistics 2009-10-09 David Rossell

Genome data are crucial in modern medicine, offering significant potential for diagnosis and treatment. Thanks to technological advancements, many millions of healthy and diseased genomes have already been sequenced; however, obtaining the…

Genomics · Quantitative Biology 2024-06-18 Teddy Lazebnik , Liron Simon-Keren

Generating virtual populations of anatomy that capture sufficient variability while remaining plausible is essential for conducting in-silico trials of medical devices. However, not all anatomical shapes of interest are always available for…

Image and Video Processing · Electrical Eng. & Systems 2024-03-05 Haoran Dou , Seppo Virtanen , Nishant Ravikumar , Alejandro F. Frangi

Sequence data, such as DNA, RNA, and protein sequences, exhibit intricate, multi-scale structures that pose significant challenges for conventional analysis methods, particularly those relying on alignment or purely statistical…

Genomics · Quantitative Biology 2025-10-22 Jian Liu , Li Shen , Mushal Zia , Guo-Wei Wei

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…

Mapping human genetic variation is fundamentally interesting in fields such as anthropology and forensic inference. At the same time patterns of genetic diversity confound efforts to determine the genetic basis of complex disease. Due to…

Applications · Statistics 2010-07-13 Ann B. Lee , Diana Luca , Kathryn Roeder

The upcoming era of large-scale, high-cadence astronomical surveys demands efficient and robust methods for time-series analysis. ARIMA models provide a versatile parametric description of stochastic variability in this context. However,…

Instrumentation and Methods for Astrophysics · Physics 2026-04-17 Ajinkya Naik , Will Handley

Biologists have long sought a way to explain how statistical properties of genetic sequences emerged and are maintained through evolution. On the one hand, non-random structures at different scales indicate a complex genome organisation. On…

Quantitative Methods · Quantitative Biology 2018-11-01 Giampaolo Cristadoro , Mirko Degli Esposti , Eduardo G. Altmann

This talk will review a little over a decade's research on applying certain stochastic models to biological sequence analysis. The models themselves have a longer history, going back over 30 years, although many novel variants have arisen…

Probability · Mathematics 2007-05-23 T. P. Speed

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

Linearized string representations serve as the foundation of scalable autoregressive molecular generation; however, they introduce a fundamental modality mismatch where a single molecular graph maps to multiple distinct sequences. This…

Machine Learning · Computer Science 2026-03-27 Xinyu Wang , Fei Dou , Jinbo Bi , Minghu Song

The advantages of sequential Monte Carlo (SMC) are exploited to develop parameter estimation and model selection methods for GARCH (Generalized AutoRegressive Conditional Heteroskedasticity) style models. It provides an alternative method…

Applications · Statistics 2020-03-06 Dan Li , Adam Clements , Christopher Drovandi

Spatial transcriptomics (ST) provides essential spatial context by mapping gene expression within tissue, enabling detailed study of cellular heterogeneity and tissue organization. However, aligning ST data with histology images poses…

Spatial transcriptomics is a modern sequencing technology that allows the measurement of the activity of thousands of genes in a tissue sample and map where the activity is occurring. This technology has enabled the study of the so-called…

Methodology · Statistics 2022-09-15 Andrea Sottosanti , Davide Risso

Much of the on-going statistical analysis of DNA sequences is focused on the estimation of characteristics of coding and non-coding regions that would possibly allow discrimination of these regions. In the current approach, we concentrate…

Genomics · Quantitative Biology 2009-11-10 D. Kugiumtzis , A. Provata

Spatial Transcriptomics is a novel technology that aligns histology images with spatially resolved gene expression profiles. Although groundbreaking, it struggles with gene capture yielding high corruption in acquired data. Given potential…

Computer Vision and Pattern Recognition · Computer Science 2024-09-30 Gabriel Mejia , Daniela Ruiz , Paula Cárdenas , Leonardo Manrique , Daniela Vega , Pablo Arbeláez

Autoregressive models use chain rule to define a joint probability distribution as a product of conditionals. These conditionals need to be normalized, imposing constraints on the functional families that can be used. To increase…

Machine Learning · Computer Science 2020-10-27 Chenlin Meng , Lantao Yu , Yang Song , Jiaming Song , Stefano Ermon

Deep generative models (DGMs) have the potential to revolutionize diagnostic imaging. Generative adversarial networks (GANs) are one kind of DGM which are widely employed. The overarching problem with deploying GANs, and other DGMs, in any…

Computer Vision and Pattern Recognition · Computer Science 2023-04-03 Rucha Deshpande , Mark A. Anastasio , Frank J. Brooks

Genome sequence analysis has enabled significant advancements in medical and scientific areas such as personalized medicine, outbreak tracing, and the understanding of evolution. Unfortunately, it is currently bottlenecked by the…