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With the reduction of sequencing costs and the pervasiveness of computing devices, genomic data collection is continually growing. However, data collection is highly fragmented and the data is still siloed across different repositories.…

Cryptography and Security · Computer Science 2022-03-14 Leonard Dervishi , Xinyue Wang , Wentao Li , Anisa Halimi , Jaideep Vaidya , Xiaoqian Jiang , Erman Ayday

Species tree estimation is a complex problem, due to the fact that different parts of the genome can have different evolutionary histories than the genome itself. One of the causes for this discord is incomplete lineage sorting (also called…

Populations and Evolution · Quantitative Biology 2019-04-09 Erin Molloy , Tandy Warnow

With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex…

Methodology · Statistics 2025-08-18 Changshuai Wei , Ming Li , Zihuai He , Olga Vsevolozhskaya , Daniel J. Schaid , Qing Lu

Genome-wide patterns of genetic divergence reveal mechanisms of adaptation under gene flow. Empirical data show that divergence is mostly concentrated in narrow genomic regions. This pattern may arise because differentiated loci protect…

Populations and Evolution · Quantitative Biology 2017-02-21 M. Rafajlovic , A. Emanuelsson , K. Johannesson , R. K. Butlin , B. Mehlig

The dominant approach to generating from language models subject to some constraint is locally constrained decoding (LCD), incrementally sampling tokens at each time step such that the constraint is never violated. Typically, this is…

The speed of site-specific binding of transcription factor (TFs) proteins with genomic DNA seems to be strongly retarded by the randomly occurring sequence traps. Traps are those DNA sequences sharing significant similarity with the…

Subcellular Processes · Quantitative Biology 2016-07-22 G. Niranjani , R. Murugan

Elucidating the demographic and phylogeographic histories of species provides insight into the processes responsible for generating biological diversity, and genomic datasets are now permitting the estimation of histories and demographic…

Populations and Evolution · Quantitative Biology 2017-03-28 Michael G. Harvey , Robb T. Brumfield

Phylogenomics, even more so than traditional phylogenetics, needs to represent the uncertainty in evolutionary trees due to systematic error. Here we illustrate the analysis of genome-scale alignments of yeast, using robust measures of the…

Populations and Evolution · Quantitative Biology 2009-12-31 Peter J. Waddell , Ariful Azad

The paper addresses challenges in storing and retrieving sequences in contexts like anomaly detection, behavior prediction, and genetic information analysis. Associative Knowledge Graphs (AKGs) offer a promising approach by leveraging…

Artificial Intelligence · Computer Science 2025-09-11 Przemysław Stokłosa , Janusz A. Starzyk , Paweł Raif , Adrian Horzyk , Marcin Kowalik

The log-det distance between two aligned DNA sequences was introduced as a tool for statistically consistent inference of a gene tree under simple non-mixture models of sequence evolution. Here we prove that the log-det distance, coupled…

Populations and Evolution · Quantitative Biology 2018-06-14 Elizabeth S. Allman , Colby Long , John A. Rhodes

DNA is a leading candidate as the next archival storage media due to its density, durability and sustainability. To read (and write) data DNA storage exploits technology that has been developed over decades to sequence naturally occurring…

Emerging Technologies · Computer Science 2022-05-12 Jasmine Quah , Omer Sella , Thomas Heinis

(An updated version of this manuscript has been accepted to Scientific Reports in 2016, please refer to http://www.nature.com/articles/srep31900) The highly anticipated transition from next generation sequencing (NGS) to third generation…

Genomics · Quantitative Biology 2016-09-06 Chengxi Ye , Chris Hill , Shigang Wu , Jue Ruan , Zhanshan , Ma

Capture-recapture methods aim to estimate the size of a closed population on the basis of multiple incomplete enumerations of individuals. In many applications, the individual probability of being recorded is heterogeneous in the…

Methodology · Statistics 2016-06-08 James E. Johndrow , Kristian Lum , Daniel Manrique-Vallier

The Spliced Alignment Problem (SAP) that consists in finding an optimal semi-global alignment of a spliced RNA sequence on an unspliced genomic sequence has been largely considered for the prediction and the annotation of gene structures in…

Data Structures and Algorithms · Computer Science 2017-09-20 Jean-David Aguilar , Safa Jammali , Esaie Kuitche , Aïda Ouangraoua

The classification of DNA sequences is a key research area in bioinformatics as it enables researchers to conduct genomic analysis and detect possible diseases. In this paper, three state-of-the-art algorithms, namely Convolutional Neural…

Other Quantitative Biology · Quantitative Biology 2020-11-03 Xiangxie Zhang , Ben Beinke , Berlian Al Kindhi , Marco Wiering

Single-cell RNA sequencing (scRNA-seq) provides high-dimensional profiles of cellular states, enabling data-driven modeling of cellular dynamics over time. In practice, time-resolved scRNA-seq is collected at only a few discrete time points…

Machine Learning · Computer Science 2026-05-22 Siyu Pu , Qingqing Long , Xiaohan Huang , Haotian Chen , Jiajia Wang , Meng Xiao , Xiao Luo , Hengshu Zhu , Yuanchun Zhou , Xuezhi Wang

Motivation: Genomic data analyses such as Genome-Wide Association Studies (GWAS) or Hi-C studies are often faced with the problem of partitioning chromosomes into successive regions based on a similarity matrix of high-resolution,…

Statistics Theory · Mathematics 2019-02-06 Christophe Ambroise , Alia Dehman , Pierre Neuvial , Guillem Rigaill , Nathalie Vialaneix

We propose a statistical method to test whether two phylogenetic trees with given alignments are significantly incongruent. Our method compares the two distributions of phylogenetic trees given by the input alignments, instead of comparing…

Populations and Evolution · Quantitative Biology 2010-04-14 Elissaveta Arnaoudova , David Haws , Peter Huggins , Jerzy W. Jaromczyk , Neil Moore , Chris Schardl , Ruriko Yoshida

Accurate identification of haplotypes in sequenced human genomes can provide invaluable information about population demography and fine-scale correlations along the genome, thus empowering both population genomic and medical association…

Genomics · Quantitative Biology 2012-11-12 Fouad Zakharia , Carlos Bustamante

Estimating and testing for differences in molecular phenotypes (e.g. gene expression, chromatin accessibility, transcription factor binding) across conditions is an important part of understanding the molecular basis of gene regulation.…

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