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This paper establishes formal mathematical foundations linking Chaos Game Representations (CGR) of DNA sequences to their underlying $k$-mer frequencies. We prove that the Frequency CGR (FCGR) of order $k$ is mathematically equivalent to a…

Formal Languages and Automata Theory · Computer Science 2025-07-01 Haoze He , Lila Kari , Pablo Millan Arias

Comparison of human and chimpanzee genomes has received much attention, because of paramount role for understanding evolutionary step distinguishing us from our closest living relative. In order to contribute to insight into Y chromosome…

Genomics · Quantitative Biology 2011-10-11 Vladimir Paar , Matko Glunčić , Ivan Basar , Marija Rosandić , Petar Paar , Mislav Cvitković

Centromeres are essential for chromosome segregation, yet their DNA sequences evolve rapidly. In most animals and plants that have been studied, centromeres contain megabase-scale arrays of tandem repeats. Despite their importance, very…

{\bf Background}: Several features are known to correlate with the GC-content in the human genome, including recombination rate, gene density and distance to telomere. However, by testing for pairwise correlation only, it is impossible to…

Genomics · Quantitative Biology 2012-05-07 Jan Freudengerb , Mingyi Wang , Yaning Yang , Wentian Li

Although theories regarding the role of sequence-specific DNA resonance in biology have abounded for over 40 years, the published evidence for it is lacking. Here, the authors reasoned that for sustained resonance signaling, the number of…

Other Quantitative Biology · Quantitative Biology 2019-10-28 Ivan Savelev , Max Myakishev-Rempel

We compare a set of convolutional neural network (CNN) architectures for the task of segmenting and detecting human sperm cells in an image taken from a semen sample. In contrast to previous work, samples are not stained or washed to allow…

Computer Vision and Pattern Recognition · Computer Science 2017-04-04 Malte Stær Nissen , Oswin Krause , Kristian Almstrup , Søren Kjærulff , Torben Trindkær Nielsen , Mads Nielsen

Several processes in the cell, such as gene regulation, start when key proteins recognise and bind to short DNA sequences. However, as these sequences can be hundreds of million times shorter than the genome, they are hard to find by simple…

Subcellular Processes · Quantitative Biology 2021-01-27 Markus Nyberg , Tobias Ambjörnsson , Per Stenberg , and Ludvig Lizana

A common problem in bioinformatics is related to identifying gene regulatory regions marked by relatively high frequencies of motifs, or deoxyribonucleic acid sequences that often code for transcription and enhancer proteins. Predicting…

Genomics · Quantitative Biology 2021-01-22 Ethan Jacob Moyer , Anup Das

The phenotype of any organism on earth is, in large part, the consequence of interplay between numerous gene products encoded in the genome, and such interplay between gene products affects the evolutionary fate of the genome itself through…

Molecular Networks · Quantitative Biology 2012-01-04 Pan-Jun Kim , Nathan D. Price

When estimating a phylogeny from a multiple sequence alignment, researchers often assume the absence of recombination. However, if recombination is present, then tree estimation and all downstream analyses will be impacted, because…

Background: Advances in high throughput sequencing technologies provide a huge number of genomes to be analyzed. Thus, computational methods play a crucial role in analyzing and extracting knowledge from the data generated. Investigating…

Non-native conformations drive protein misfolding diseases, complicate bioengineering efforts, and fuel molecular evolution. No current experimental technique is well-suited for elucidating them and their phenotypic effects. Especially…

We explore the large-scale behavior of nucleotide compositional strand asymmetries along human chromosomes. As we observe for 7 of 9 origins of replication experimentally identified so far, the (TA+GC) skew displays rather sharp upward…

We study the primary DNA structure of four of the most completely sequenced human chromosomes (including chromosome 19 which is the most dense in coding), using Non-extensive Statistics. We show that the exponents governing the decay of the…

Genomics · Quantitative Biology 2009-11-11 Th. Oikonomou , A. Provata

Motivation: With the rapid expansion of large-scale biological datasets, DNA and protein sequence alignments have become essential for comparative genomics and proteomics. These alignments facilitate the exploration of sequence similarity…

Genomics · Quantitative Biology 2024-12-02 Michail Patsakis , Kimonas Provatas , Ioannis Mouratidis , Ilias Georgakopoulos-Soares

Effective cross-modal retrieval requires robust alignment of heterogeneous data types. Most existing methods focus on bi-modal retrieval tasks and rely on distributional alignment techniques such as Kullback-Leibler divergence, Maximum Mean…

Information Retrieval · Computer Science 2025-09-29 Jiahao Zhang , Wenzhe Yin , Shujian Yu

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

Sequence comparison across multiple organisms aids in the detection of regions under selection. However, resource limitations require a prioritization of genomes to be sequenced. This prioritization should be grounded in two considerations:…

Genomics · Quantitative Biology 2007-05-23 Jon D. McAuliffe , Michael I. Jordan , Lior Pachter

Genomic data sets are growing dramatically as the cost of sequencing continues to decline and small sequencing devices become available. Enormous community databases store and share this data with the research community, but some of these…

Various approaches to alignment-free sequence comparison are based on the length of exact or inexact word matches between two input sequences. Haubold {\em et al.} (2009) showed how the average number of substitutions between two DNA…

Populations and Evolution · Quantitative Biology 2017-09-06 Burkhard Morgenstern , Svenja Schöbel , Chris-André Leimeister