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The number of extant individuals within a lineage, as exemplified by counts of species numbers across genera in a higher taxonomic category, is known to be a highly skewed distribution. Because the sublineages (such as genera in a clade)…

Applications · Statistics 2009-01-09 Panagis Moschopoulos , Max Shpak

We model long range correlations of nucleotides in the human DNA sequence using the long range one dimensional Ising model. We show that for distances between $10^3$ and $10^6$ bp the correlations show an universal behaviour and may be…

Other Quantitative Biology · Quantitative Biology 2015-05-13 A. Colliva , R. Pellegrini , A. Testori , M. Caselle

RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

With the help of one-dimensional random Potts-like model we study the origins of fine structure observed on differential melting profiles of double-stranded DNA. We assess the effects of sequence arrangement on DNA melting curves through…

Soft Condensed Matter · Physics 2024-04-11 Arevik V. Asatryan , Albert S. Benight , Artem V. Badasyan

Standing genetic variation provides a rich reservoir of potentially useful mutations facilitating the adaptation to novel environments. Experimental evolution studies have demonstrated that rapid and strong phenotypic responses to selection…

Populations and Evolution · Quantitative Biology 2013-07-19 Robert Kofler , Christian Schlötterer

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

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

The evolution of the full repertoire of proteins encoded in a given genome is mostly driven by gene duplications, deletions, and sequence modifications of existing proteins. Indirect information about relative rates and other intrinsic…

Genomics · Quantitative Biology 2008-03-25 Jacob Bock Axelsen , Koon-Kiu Yan , Sergei Maslov

We introduce a model of DNA sequence evolution which can account for biases in mutation rates that depend on the identity of the neighboring bases. An analytic solution for this class of non-equilibrium models is developed by adopting…

Biological Physics · Physics 2007-05-23 Peter F. Arndt , Christopher B. Burge , Terence Hwa

Repetitive elements are important in genomic structures, functions and regulations, yet effective methods in precisely identifying repetitive elements in DNA sequences are not fully accessible, and the relationship between repetitive…

Genomics · Quantitative Biology 2016-08-03 Changchuan Yin

Unsupervised learning on high-dimensional RNA-seq data can reveal molecular subtypes beyond standard labels. We combine an autoencoder-based representation with clustering and stability analysis to search for rare but reproducible genomic…

Machine Learning · Computer Science 2025-11-18 Alaa Mezghiche

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

DNA replication is an essential process in biology and its timing must be robust so that cells can divide properly. Random fluctuations in the formation of replication starting points, called origins, and the subsequent activation of…

Quantitative Methods · Quantitative Biology 2012-02-03 Jens Karschau , J. Julian Blow , Alessandro P. S. de Moura

Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homology even among closely related organisms. We describe a…

Genomics · Quantitative Biology 2009-11-02 Aaron E. Darling , Bob Mau , Nicole T. Perna

Clusters of genes that have evolved by repeated segmental duplication present difficult challenges throughout genomic analysis, from sequence assembly to functional analysis. Improved understanding of these clusters is of utmost importance,…

Machine Learning · Computer Science 2010-01-25 Tomáš Vinař , Broňa Brejová , Giltae Song , Adam Siepel

It is known that the majority of the human genome consists of repeated sequences. Furthermore, it is believed that a significant part of the rest of the genome also originated from repeated sequences and has mutated to its current form. In…

Information Theory · Computer Science 2014-01-21 Farzad Farnoud , Moshe Schwartz , Jehoshua Bruck

Gene sequences in the vicinity of splice sites are found to possess dinucleotide periodicities, especially RR and YY, with the period close to the pitch of nucleosome DNA. This confirms previously reported finding about preferential…

Genomics · Quantitative Biology 2007-05-23 Simon Kogan , Edward N. Trifonov

Genomic aberrations, such as somatic copy number alterations, are frequently observed in tumor tissue. Recurrent aberrations, occurring in the same region across multiple subjects, are of interest because they may highlight genes associated…

Statistics Theory · Mathematics 2014-03-11 Vonn Walter , Fred A. Wright , Andrew B. Nobel

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

Development combines three basic processes asymmetric --- cell division, signaling and gene regulation --- in a multitude of ways to create an overwhelming diversity of multicellular life-forms. Here, we attempt to chart this diversity…

Molecular Networks · Quantitative Biology 2020-01-01 Somya Mani , Tsvi Tlusty