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Next-generation sequencing (NGS) is a pivotal technique in genome sequencing due to its high throughput, rapid results, cost-effectiveness, and enhanced accuracy. Its significance extends across various domains, playing a crucial role in…

Genomics · Quantitative Biology 2025-04-28 Fathima Nuzla Ismail , Shanika Amarasoma

A synthetic dataset is a data object that is generated programmatically, and it may be valuable to creating a single dataset from multiple sources when direct collection is difficult or costly. Although it is a fundamental step for many…

Applications · Statistics 2020-09-22 Zheng Li , Yue Zhao , Jialin Fu

Motivation: Millions of genes in the modern species belong to only thousands of `gene families'. A gene family includes instances of the same gene in different species (orthologs) and duplicate genes in the same species (paralogs). Genes…

Populations and Evolution · Quantitative Biology 2012-05-04 Yu Zheng , Taoyang Wu , Louxin Zhang

The accelerating growth of scientific publications has intensified the need for scalable, trustworthy systems to synthesize knowledge across diverse literature. While recent retrieval-augmented generation (RAG) methods have improved access…

Digital Libraries · Computer Science 2025-11-19 Hang Ding , Yilun Zhao , Tiansheng Hu , Manasi Patwardhan , Arman Cohan

Polygenic risk scores and other genomic analyses require large individual-level genotype datasets, yet strict data access restrictions impede sharing. Synthetic genotype generation offers a privacy-preserving alternative, but most existing…

A phylogeny describes the evolutionary history of an evolving population. Evolutionary search algorithms can perfectly track the ancestry of candidate solutions, illuminating a population's trajectory through the search space. However,…

Neural and Evolutionary Computing · Computer Science 2024-02-05 Alexander Lalejini , Marcos Sanson , Jack Garbus , Matthew Andres Moreno , Emily Dolson

Motivation: Time course data obtained from biological samples subject to specific treatments can be very useful for revealing complex and novel biological phenomena. Although an increasing number of time course microarray datasets becomes…

Applications · Statistics 2008-08-27 Wei Wu , Nilesh B. Dave , Naftali Kaminski

Phylogenetic inference, the task of reconstructing how related sequences evolved from common ancestors, is a central objective in evolutionary genomics. The current state-of-the-art methods exploit probabilistic models of sequence evolution…

Populations and Evolution · Quantitative Biology 2026-02-19 Luc Blassel , Noémie Sauvage , Pierre Barrat-Charlaix , Bastien Boussau , Nicolas Lartillot , Laurent Jacob

Sequential Recommender Systems (SRSs) have emerged as a highly efficient approach to recommendation systems. By leveraging sequential data, SRSs can identify temporal patterns in user behaviour, significantly improving recommendation…

The identification of genetic signal regions in the human genome is critical for understanding the genetic architecture of complex traits and diseases. Numerous methods based on scan algorithms (i.e. QSCAN, SCANG, SCANG-STARR) have been…

Applications · Statistics 2025-01-24 Wei Zhang , Fan Wang , Fang Yao

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Most of major algorithms for phylogenetic tree reconstruction assume that sequences in the analyzed set either do not have any offspring, or that parent sequences can maximally mutate into just two descendants. The graph resulting from such…

Populations and Evolution · Quantitative Biology 2013-10-09 Piotr Plonski , Jan P. Radomski

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

Genomic datasets generated with massively parallel sequencing methods have the potential to propel systematics in new and exciting directions, but selecting appropriate markers and methods is not straightforward. We applied two approaches…

Genomics · Quantitative Biology 2017-03-28 Michael G. Harvey , Brian Tilston Smith , Travis C. Glenn , Brant C. Faircloth , Robb T. Brumfield

The detection of genomic structural variation (SV) has advanced tremendously in recent years due to progress in high-throughput sequencing technologies. Novel sequence insertions, insertions without similarity to a human reference genome,…

Genomics · Quantitative Biology 2015-04-09 Birte Kehr , Páll Melsted , Bjarni V. Halldórsson

With the recent advances in DNA sequencing, it is now possible to have complete genomes of individuals sequenced and assembled. This rich and focused genotype information can be used to do different population-wide studies, now first time…

Data Structures and Algorithms · Computer Science 2011-09-08 Jouni Sirén , Niko Välimäki , Veli Mäkinen

Introduction: Feature selection and gene set analysis are of increasing interest in bioinformatics. While these two approaches have been developed for different purposes, we describe how some gene set analysis methods can be used to conduct…

Methodology · Statistics 2015-11-30 Suyan Tian , Chi Wang , Howard H. Chang

Scientific investigations that incorporate next generation sequencing involve analyses of high-dimensional data where the need to organize, collate and interpret the outcomes are pressingly important. Currently, data can be collected at the…

Machine Learning · Statistics 2016-08-01 Stephen T Rush , Christine H Lee , Washington Mio , Peter T Kim

Recently, much attention has been given to understanding recombination events along a chromosome in a variety of field. For instance, many population genetics problems are limited by the inaccuracy of inferred evolutionary histories of…

Quantitative Methods · Quantitative Biology 2017-10-31 Jacqueline Kane , Joseph Rusinko , Katherine Thompson

The use of gene microchips has enabled a rapid accumulation of gene-expression data. One of the major challenges of analyzing this data is the diversity, in both size and signal strength, of the various modules in the gene regulatory…

Quantitative Methods · Quantitative Biology 2007-05-23 Morten Kloster , Chao Tang , Ned Wingreen