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The human genome remains incomplete, with multi-megabase sized gaps representing the endogenous centromeres and other heterochromatic regions. These regions are commonly enriched with long arrays of near-identical tandem repeats, known as…

Genomics · Quantitative Biology 2013-10-28 Karen H. Miga , Yulia Newton , Miten Jain , Nicolas Altemose , Huntington F. Willard , W. James Kent

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

The chromatin folding and the spatial arrangement of chromosomes in the cell play a crucial role in DNA replication and genes expression. An improper chromatin folding could lead to malfunctions and, over time, diseases. For eukaryotes,…

Machine Learning · Statistics 2025-11-13 Eloïse Touron , Pedro L. C. Rodrigues , Julyan Arbel , Nelle Varoquaux , Michael Arbel

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…

Motivation: Thanks to the recent advances in structural biology, nowadays three-dimensional structures of various proteins are solved on a routine basis. A large portion of these contain structural repetitions or internal symmetries. To…

Quantitative Methods · Quantitative Biology 2018-10-30 Guillaume Pagès , Sergei Grudinin

Tandem duplications are an essential source of genetic novelty, and their variation in natural populations is expected to influence adaptive walks. Here, we describe evolutionary impacts of recently-derived, segregating tandem duplications…

Populations and Evolution · Quantitative Biology 2015-08-13 Rebekah L Rogers , Julie M Cridland , Ling Shao , Tina T Hu , Peter Andolfatto , Kevin R Thornton

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

De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until…

Genomics · Quantitative Biology 2023-08-16 Heng Li , Richard Durbin

Motivation: Genome rearrangement plays an important role in evolutionary biology and has profound impacts on phenotype in organisms ranging from microbes to humans. The mechanisms for genome rearrangement events remain unclear. Lots of…

Genomics · Quantitative Biology 2016-08-09 Dan Wang , Shuaicheng Li , Fei Guo , Lusheng Wang

Data compression plays an important role to deal with high volumes of DNA sequences in the field of Bioinformatics. Again data compression techniques directly affect the alignment of DNA sequences. So the time needed to decompress a…

Computational Engineering, Finance, and Science · Computer Science 2012-11-13 Subhankar Roy , Sunirmal Khatua , Sudipta Roy , Samir K. Bandyopadhyay

The majority of the human genome consists of repeated sequences. An important type of repeated sequences common in the human genome are tandem repeats, where identical copies appear next to each other. For example, in the sequence…

Information Theory · Computer Science 2016-11-18 Siddharth Jain , Farzad Farnoud , Jehoshua Bruck

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

We have used whole genome paired-end Illumina sequence data to identify tandem duplications in 20 isofemale lines of D. yakuba, and 20 isofemale lines of D. simulans and performed genome wide validation with PacBio long molecule sequencing.…

Genomics · Quantitative Biology 2014-04-24 Rebekah L. Rogers , Julie M. Cridland , Ling Shao , Tina T. Hu , Peter Andolfatto , Kevin R. Thornton

After the recent advancement of sequencing strategies, mirror repeats have been found to be present in the gene sequence of many organisms and species. This presence of mirror repeats in most of the sequences indicates towards some…

Genomics · Quantitative Biology 2013-12-16 Bhardwaj Vikash , Gupta Swapni , Meena Sitaram , Sharma Kulbhushan

The phenomenon of gene conservation is an interesting evolutionary problem related to speciation and adaptation. Conserved genes are acted upon in evolution in a way that preserves their function despite other structural and functional…

Genomics · Quantitative Biology 2008-07-23 Bradly J. Alicea , Marcela A. Carvallo-Pinto , Jorge L. M. Rodrigues

The correlations between the sequence of monomers in a polymer and its three-dimensional structure is a grand challenge in polymer science and biology. The properties and functions of macromolecules depend on their 3D shape that has…

Materials Science · Physics 2021-07-15 Ashwin A Bale , Tarak K Patra

Genome-wide analysis of distributions of densities of long-range interactions of human chromosomes with each other, nucleoli, nuclear lamina, and binding sites of chromatin state regulatory proteins, CTCF and STAT1, identifies non-random…

Genomics · Quantitative Biology 2014-01-13 Gennadi V. Glinsky

Pattern analysis of tandem repeats in gene is an indispensable computational approach to the understanding of the gene expression and pathogenesis of diseases. This research applied a computational motif model and database techniques to…

Genomics · Quantitative Biology 2013-02-11 Sim-Hui Tee

Molecular clock (MC) is a central concept of molecular evolution according to which each gene evolves at a characteristic, near constant rate. Numerous evolutionary studies have demonstrated the validity of MC but also have shown that MC is…

Populations and Evolution · Quantitative Biology 2015-06-04 Sagi Snir , Yuri I. Wolf , Eugene V. Koonin

The interaction energies between the different types of bases of a single strand of DNA molecule have been calculated. Using these original values of energies the harmonic behavior of a number of base patterns of DNA has been studied. In…

Biological Physics · Physics 2007-05-23 Md. Ashrafuzzaman , Ahmed Shafee
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