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Biologists have long sought a way to explain how statistical properties of genetic sequences emerged and are maintained through evolution. On the one hand, non-random structures at different scales indicate a complex genome organisation. On…

Quantitative Methods · Quantitative Biology 2018-11-01 Giampaolo Cristadoro , Mirko Degli Esposti , Eduardo G. Altmann

Genome-wide association studies (GWAS) are commonly employed to study the genetic basis of complex traits and diseases, and a key question is how much heritability could be explained by all variants in GWAS. One widely used approach that…

Genomics · Quantitative Biology 2023-06-27 Hon-Cheong So , Xiao Xue , Pak-Chung Sham

A Bio-metrics system is actually a pattern recognition system that utilizes various patterns like iris, retina and biological traits like fingerprint, voice recognition, facial geometry and hand geometry. What makes Bio-metrics really…

Cryptography and Security · Computer Science 2022-02-01 Kavyashree U , K N Deeksha , Suma Ballal , Vitina Mary Dsouza , Rama Moorthy H

How do genes affect cognitive ability or other human quantitative traits such as height or disease risk? Progress on this challenging question is likely to be significant in the near future. I begin with a brief review of psychometric…

Genomics · Quantitative Biology 2014-09-02 Stephen D. H. Hsu

We present a comparative analysis of large-scale topological and evolutionary properties of transcription networks in three species, the two distant bacteria E. coli and B. subtilis, and the yeast S. cerevisiae. The study focuses on the…

Molecular Networks · Quantitative Biology 2008-05-16 A. L. Sellerio , B. Bassetti , H. Isambert , M. Cosentino Lagomarsino

Using a sample from a population to estimate the proportion of the population with a certain category label is a broadly important problem. In the context of microbiome studies, this problem arises when researchers wish to use a sample from…

Methodology · Statistics 2019-02-08 Bryan D. Martin , Daniela Witten , Amy D. Willis

Dispersal of species is a fundamental ecological process in the evolution and maintenance of biodiversity. Limited control over ecological parameters has hindered progress in understanding of what enables species to colonise new area, as…

Populations and Evolution · Quantitative Biology 2014-05-21 Markus F. Weber , Gabriele Poxleitner , Elke Hebisch , Erwin Frey , Madeleine Opitz

Motivation: Gene blocks are genes co-located on the chromosome. In many cases, genes blocks are conserved between bacterial species, sometimes as operons, when genes are co-transcribed. The conservation is rarely absolute: gene loss, gain,…

Genomics · Quantitative Biology 2015-02-26 David C Ream , Asma R Bankapur , Iddo Friedberg

One of the major developments in recent years in the search for missing heritability of human phenotypes is the adoption of linear mixed-effects models (LMMs) to estimate heritability due to genetic variants which are not significantly…

Populations and Evolution · Quantitative Biology 2013-05-28 David Golan , Saharon Rosset

Estimating the prevalence of a disease is necessary for evaluating and mitigating risks of its transmission within or between populations. Estimates that consider how prevalence changes with time provide more information about these risks…

Applications · Statistics 2021-11-12 Braden Scherting , Alison Peel , Raina Plowright , Andrew Hoegh

Serum prostate-specific antigen (PSA) is widely used for prostate cancer screening. While the genetics of PSA levels has been studied to enhance screening accuracy, the genetic basis of PSA velocity, the rate of PSA change over time,…

Applications · Statistics 2025-09-25 Pei Zhang , Xiaoyu Wang , Jianxin Shi , Paul S. Albert

This paper describes a Bayesian statistical method for determining the genetic basis of a complex genetic trait. The method uses a sample of unrelated individuals classified into two groups, for example cases and controls. Each group is…

Genomics · Quantitative Biology 2008-02-21 Toby Johnson

In our paper selected linguistic features of genomes to study the statistics of the gene codes are considered. We present the information theory from which it follows that if the system is described by distributions of hyperbolic type it…

Genomics · Quantitative Biology 2014-07-10 Krystyna Lukierska-Walasek , Krzysztof Topolski , Krzysztof Trojanowski

Population genetic studies have found evidence for dramatic population growth in recent human history. It is unclear how this recent population growth, combined with the effects of negative natural selection, has affected patterns of…

Populations and Evolution · Quantitative Biology 2014-02-11 Kirk E. Lohmueller

Epidemic disease spreading is conventionally often modelled and analyzed by means of rate and diffusion equations, following the paradigms of well-controlled chemical reactions and diffusive dynamics in a test tube. Yet, serious worries…

Physics and Society · Physics 2023-01-03 Klaus Kroy

Numerous studies have utilized NCBI data for genomic analysis, gene annotation, and identifying disease-associated variants, yet NCBI's epidemiological potential remains underexplored. This study demonstrates how NCBI datasets can be…

Quantitative Methods · Quantitative Biology 2025-11-20 Bryan Harris , Majid Bani-Yaghoub

As sequencing technologies become more affordable and genomic databases expand continuously, the reuse of publicly available sequencing data emerges as a powerful strategy for studying microbial pathogens. Indeed, raw sequencing reads…

Quantitative Methods · Quantitative Biology 2025-05-16 Damien Richard , Nils Poulicard

Many common diseases have a complex genetic basis in which large numbers of genetic variations combine with environmental and lifestyle factors to determine risk. However, quantifying such polygenic effects and their relationship to disease…

We propose and apply a novel paradigm for characterization of genome data quality, which quantifies the effects of intentional degradation of quality. The rationale is that the higher the initial quality, the more fragile the genome and the…

Machine Learning · Statistics 2022-10-12 Alan F. Karr , Jason Hauzel , Adam A. Porter , Marcel Schaefer

Due to the recent evolution of sequencing techniques, the number of available genomes is rising steadily, leading to the possibility to make large scale genomic comparison between sets of close species. An interesting question to answer is:…

Computational Engineering, Finance, and Science · Computer Science 2014-09-24 Bassam AlKindy , Jean-François Couchot , Christophe Guyeux , Arnaud Mouly , Michel Salomon , Jacques M. Bahi