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The Cancer Genome Atlas project was initiated by the National Cancer Institute in order to characterize the genomes of hundreds of tumors of various cancer types. While much effort has been put into detecting somatic genomic variation in…

Genomics · Quantitative Biology 2015-01-20 Tracy Ballinger , Adam D. Ewing , David Haussler

Background: Transposable elements (TEs) in eukaryote genomes are quantitatively the main components affecting genome size, structure and expression. The dynamics of their insertion and deletion depend on diverse factors varying in strength…

Genomics · Quantitative Biology 2013-11-26 Anna-Sophie Fiston-Lavier , Charles E. Vejnar , Hadi Quesneville

Chromosomal rearrangements, which shuffle DNA throughout the genome, are an important source of divergence across taxa. Using a paired-end read approach with Illumina sequence data for archaic humans, I identify changes in genome structure…

Genomics · Quantitative Biology 2015-10-07 Rebekah L. Rogers

When modeling a given type of data, we consider it to involve two key aspects: 1) identifying relevant elements (e.g., image pixels or textual words) to a central element, as in a convolutional receptive field, or to a query element, as in…

Machine Learning · Computer Science 2025-10-14 Hehe Fan , Yi Yang , Mohan Kankanhalli , Fei Wu

Chromosome organisation is increasingly recognised as an essential component of genome regulation, cell fate and cell health. Within the realm of transposable elements (TEs) however, the spatial information of how genomes are folded is…

Biological Physics · Physics 2019-11-01 Alexandros Bousios , Hans-Wilhelm Nuetzmann , Dorothy Buck , Davide Michieletto

This study presents the first global, 1 Mbp level analysis of patterns of nucleotide substitutions along the human lineage. The study is based on the analysis of a large amount of repetitive elements deposited into the human genome since…

Genomics · Quantitative Biology 2007-05-23 Peter F Arndt , Terence Hwa , Dmitri A Petrov

Splicing sites provide unique statistics in human genome due to their large number and reasonably complete annotation. Analyses of the cumulative SNPs distribution in splicing sites reveal a few interesting observations. While a degree of…

Genomics · Quantitative Biology 2007-05-23 Dmitri Parkhomchuk

Transfer-RNA genes in archaea often have introns intervening between exon sequences. The structural motif at the boundary between exon and intron is the bulge-helix-bulge. Computational investigations of these boundary structures in H.…

Transposable elements are DNA sequences that can move around to different positions in the genome. During this process, they can cause mutations, and lead to an increase in genome size. Despite representing a large genomic fraction,…

Cell Behavior · Quantitative Biology 2015-11-04 Alessandro Fontana

Chromosomal rearrangements, particularly those mediated by transposable elements (TEs), can drive adaptive evolution by creating chimeric genes, inducing de novo gene formation, or altering gene expression. Here, we investigate…

Populations and Evolution · Quantitative Biology 2024-12-09 Brandon A. Turner , Theresa R. Erlenbach , Nicholas B. Stewart , Robert W. Reid , Cathy C. Moore , Rebekah L. Rogers

Parts of DNA sequences known as exons and introns play very different role in coding and storage of genetic information. Here we show that their conducting properties are also very different. Taking into account long-range correlations…

Soft Condensed Matter · Physics 2015-05-14 A. A. Krokhin , V. M. K. Bagci , F. M. Izrailev , O. V. Usatenko , V. A. Yampol'skii

Background: Exonic splice enhancers are sequences embedded within exons which promote and regulate the splicing of the transcript in which they are located. A class of exonic splice enhancers are the SR proteins, which are thought to…

Genomics · Quantitative Biology 2007-05-23 Thomas A. Down , Bernard Leong , Tim J. P. Hubbard

The human genome contains repetitive DNA at different level of sequence length, number and dispersion. Highly repetitive DNA is particularly rich in homo-- and di--nucleotide repeats, while middle repetitive DNA is rich of families of…

Genomics · Quantitative Biology 2009-11-11 Francesco Piazza , Pietro Lio

A-to-I RNA editing by ADARs is a post-transcriptional mechanism for expanding the proteomic repertoire. Genetic recoding by editing was so far observed for only a few mammalian RNAs that are predominantly expressed in nervous tissues.…

During evolution of microorganisms genomes underwork have different changes in their lengths, gene orders, and gene contents. Investigating these structural rearrangements helps to understand how genomes have been modified over time. Some…

Genomics · Quantitative Biology 2017-06-27 Huda Al-Nayyef , Christophe Guyeux , Marie Petitjean , Didier Hocquet , Jacques M. Bahi

Transposable elements may acquire unrelated gene fragments into their sequences in a process called transduplication. Transduplication of protein-coding genes is common in plants, but is unknown of in animals. Here, we report that the…

Genomics · Quantitative Biology 2008-11-24 Noa Sela , Adi Stern , Wojciech Makalowski , Tal Pupko , Gil Ast

Transformers underpin modern large language models (LLMs) and are commonly assumed to be behaviorally unstructured at random initialization, with all meaningful preferences emerging only through large-scale training. We challenge this…

Machine Learning · Statistics 2026-02-06 Siquan Li , Yao Tong , Haonan Wang , Tianyang Hu

Differences in the regional substitution patterns in the human genome created patterns of large-scale variation of base composition known as genomic isochores. To gain insight into the origin of the genomic isochores we develop a maximum…

Statistical Mechanics · Physics 2007-05-23 Peter F. Arndt , Dmitri A. Petrov , Terence Hwa

The average size of internal translated exons, ranging from 120 to 165 nt across metazoans, is approximately the size of the typical mononucleosome (147 nt). Genome-wide study has also shown that nucleosome occupancy is significantly higher…

Genomics · Quantitative Biology 2014-05-29 Liya Wang , Lincoln Stein , Doreen Ware

Despite significant progress in structural and functional characterization of human genome, understanding of mechanisms underlying the genetic basis of human phenotypic uniqueness remains limited. We report that non-randomly distributed…

Genomics · Quantitative Biology 2025-12-30 Gennadi Glinsky