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Related papers: Centromere reference models for human chromosomes …

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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…

Summary: Human alpha satellite and satellite 2/3 contribute to several percent of the human genome. However, identifying these sequences with traditional algorithms is computationally intensive. Here we develop dna-brnn, a recurrent neural…

Genomics · Quantitative Biology 2019-03-19 Heng Li

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

All genes on the human Y-chromosome were studied using fractal dimension and Shannon entropy. Clear outlier clusters were identified. Among these were 6 sequences that have since been withdrawn as CDSs and 1 additional sequence that is not…

Genomics · Quantitative Biology 2014-04-10 Todd Holden , JianMin Ye

In the last few decades, the human allosomes are engrossed in an intensive attention among researchers. The allosomes are now already been sequenced and found there are about 2000 and 78 genes in human X and Y chromosomes respectively. The…

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

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

We investigate a densely packed, non-random arrangement of forty-six chromosomes (46,XY) in human nuclei. Here, we model systems-level chromosomal crosstalk by unifying intrinsic parameters (chromosomal length and number of genes) across…

Genomics · Quantitative Biology 2017-11-09 Sarosh N. Fatakia , Ishita S. Mehta , Basuthkar J. Rao

Satellite DNA are long tandemly repeating sequences in a genome and may be organized as high-order repeats (HORs). They are enriched in centromeres and are challenging to assemble. Existing algorithms for identifying satellite repeats…

Genomics · Quantitative Biology 2023-04-20 Yujie Zhang , Justin Chu , Haoyu Cheng , Heng Li

Humans have $23$ pairs of homologous chromosomes. The homologous pairs are almost identical pairs of chromosomes. For the most part, differences in homologous chromosome occur at certain documented positions called single nucleotide…

Information Theory · Computer Science 2015-02-09 Govinda M. Kamath , Eren Şaşoğlu , David Tse

Background: The delineation of genomic copy number abnormalities (CNAs) from cancer samples has been instrumental for identification of tumor suppressor genes and oncogenes and proven useful for clinical marker detection. An increasing…

Genomics · Quantitative Biology 2013-04-04 Haoyang Cai , Nitin Kumar , Michael Baudis

We examine the distribution of heterozygous sites in nine European and nine Yoruban individuals whose genomic sequences were made publicly available by Complete Genomics. We show that it is possible to obtain detailed information about…

Populations and Evolution · Quantitative Biology 2012-12-14 Joshua G. Schraiber , Stephannie Shih , Montgomery Slatkin

Being able to store and transmit human genome sequences is an important part in genomic research and industrial applications. The complete human genome has 3.1 billion base pairs (haploid), and storing the entire genome naively takes about…

Genomics · Quantitative Biology 2020-10-07 Anirduddha Laud , Gaurav Menghani , Madhava Keralapura

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…

Current Y chromosome research is limited in the poor resolution of Y chromosome phylogenetic tree. Entirely sequenced Y chromosomes in numerous human individuals have only recently become available by the advent of next-generation…

Populations and Evolution · Quantitative Biology 2013-10-25 Chuan-Chao Wang , Hui Li

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

Chromosome analysis and identification from metaphase images is a critical part of cytogenetics based medical diagnosis. It is mainly used for identifying constitutional, prenatal and acquired abnormalities in the diagnosis of genetic…

Computer Vision and Pattern Recognition · Computer Science 2022-09-13 Amritha S Pallavoor , Prajwal A , Sundareshan TS , Sreekanth K Pallavoor

Alpha satellite DNA is large tandem arrays of 150-400 bp units, and its origin remains an evolutionary mystery. In this research, we identified 1,545 alpha-satellite-like (SatL) repeat units in the nuclear genome of jewel wasp Nasonia…

Genomics · Quantitative Biology 2025-02-13 Yihang Zhou

The distribution of bases spacing in human genome was investigated. An analysis of the frequency of occurrence in the human genome of different sequence lengths flanked by one type of nucleotide was carried out showing that the distribution…

Other Quantitative Biology · Quantitative Biology 2019-04-18 Andrzej Z. Górski , Monika Piwowar
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