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Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

We analyze the structure of DNA molecules of different organisms by using the additive Markov chain approach. Transforming nucleotide sequences into binary strings, we perform statistical analysis of the corresponding "texts". We develop…

Other Quantitative Biology · Quantitative Biology 2014-11-14 S. S. Melnik , O. V. Usatenko

We provide an overview of current approaches to DNA-based storage system design and accompanying synthesis, sequencing and editing methods. We also introduce and analyze a suite of new constrained coding schemes for both archival and random…

Emerging Technologies · Computer Science 2015-07-08 S. M. Hossein Tabatabaei Yazdi , Han Mao Kiah , Eva Ruiz Garcia , Jian Ma , Huimin Zhao , Olgica Milenkovic

Disordered proteins play essential roles in myriad cellular processes, yet their structural characterization remains a major challenge due to their dynamic and heterogeneous nature. We here present a community-driven initiative to address…

We propose a general modeling and inference framework that composes probabilistic graphical models with deep learning methods and combines their respective strengths. Our model family augments graphical structure in latent variables with…

Machine Learning · Statistics 2017-07-10 Matthew J. Johnson , David Duvenaud , Alexander B. Wiltschko , Sandeep R. Datta , Ryan P. Adams

We present a detailed kinetic model for the Polymerase Chain Reaction, and model the probability of replication in terms of the physical parameters of the problem. Applying the theory of branching processes, we show the existance of a new…

Statistical Mechanics · Physics 2007-05-23 Guillermo A. Cecchi , Gustavo Stolovitzky

The modeling of genomic sequences presents unique challenges due to their length and structural complexity. Traditional sequence models struggle to capture long-range dependencies and biological features inherent in DNA. In this work, we…

Computational Engineering, Finance, and Science · Computer Science 2026-03-09 Qirong Yang , Yucheng Guo , Zicheng Liu , Yujie Yang , Qijin Yin , Siyuan Li , Shaomin Ji , Linlin Chao , Xiaoming Zhang , Stan Z. Li

The complementary strands of DNA molecules can be separated when stretched apart by a force; the unzipping signal is correlated to the base content of the sequence but is affected by thermal and instrumental noise. We consider here the…

Biomolecules · Quantitative Biology 2015-05-13 Valentina Baldazzi , Serena Bradde , Simona Cocco , Enzo Marinari , Remi Monasson

We introduce a novel generative formulation of deep probabilistic models implementing "soft" constraints on their function dynamics. In particular, we develop a flexible methodological framework where the modeled functions and derivatives…

Machine Learning · Statistics 2018-06-19 Marco Lorenzi , Maurizio Filippone

Protein inference plays a vital role in the proteomics study. Two major approaches could be used to handle the problem of protein inference; top-down and bottom-up. This paper presents a framework for protein inference, which uses hardware…

Computational Engineering, Finance, and Science · Computer Science 2014-03-07 S. M. Vidanagamachchi , S. D. Dewasurendra , R. G. Ragel

A versatile approach to modeling the conformations and energetics of DNA loops is presented. The model is based on the classical theory of elasticity, modified to describe the intrinsic twist and curvature of DNA, the DNA bending…

Biological Physics · Physics 2007-05-23 Alexander Balaeff , L. Mahadevan , Klaus Schulten

This thesis describes work on two applications of probabilistic programming: the learning of probabilistic program code given specifications, in particular program code of one-dimensional samplers; and the facilitation of sequential Monte…

Artificial Intelligence · Computer Science 2020-05-21 Yura N Perov

We have developed a generalized semi-analytic approach for efficiently computing cyclization and looping $J$ factors of DNA under arbitrary binding constraints. Many biological systems involving DNA-protein interactions impose precise…

Biomolecules · Quantitative Biology 2015-05-14 David P. Wilson , Alexei V. Tkachenko , Jens-Christian Meiners

DNA-based biodiversity surveys involve collecting physical samples from survey sites and assaying the contents in the laboratory to detect species via their diagnostic DNA sequences. DNA-based surveys are increasingly being adopted for…

Heterogeneity is a dominant factor in the behaviour of many biological processes. Despite this, it is common for mathematical and statistical analyses to ignore biological heterogeneity as a source of variability in experimental data.…

The increasing availability of high throughput data arising from gene expression studies leads to the necessity of methods for summarizing the available information. As annotation quality improves it is becoming common to rely on the Gene…

Genomics · Quantitative Biology 2007-05-23 Alex Sanchez-Pla , Miquel Salicru , Jordi Ocanya

Comprehensive discovery of structural variation (SV) in human genomes from DNA sequencing requires the integration of multiple alignment signals including read-pair, split-read and read-depth. However, owing to inherent technical…

Genomics · Quantitative Biology 2014-01-23 Ryan M. Layer , Ira M. Hall , Aaron R. Quinlan

Reconstructing components of a genomic mixture from data obtained by means of DNA sequencing is a challenging problem encountered in a variety of applications including single individual haplotyping and studies of viral communities.…

Genomics · Quantitative Biology 2019-11-14 Ziqi Ke , Haris Vikalo

We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is…

Applications · Statistics 2008-04-11 Rodrigo Labouriau , Poul Sørensen , Helle R. Juul-Madsen

This paper provides a framework in order to statistically model sequences from human genome, which is allowing a formulation to synthesize gene sequences. We start by converting the alphabetic sequence of genome to decimal sequence by…

Other Quantitative Biology · Quantitative Biology 2019-08-12 Salman Mohamadi , Farhang Yeganegi , Hamidreza Amindavar