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Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants…

Populations and Evolution · Quantitative Biology 2013-06-18 M. Cyrus Maher , Lawrence H. Uricchio , Dara G. Torgerson , Ryan D. Hernandez

Natural selection explains how life has evolved over millions of years from more primitive forms. The speed at which this happens, however, has sometimes defied formal explanations when based on random (uniformly distributed) mutations.…

Neural and Evolutionary Computing · Computer Science 2018-06-22 Santiago Hernández-Orozco , Narsis A. Kiani , Hector Zenil

Tests of the neutral evolution hypothesis are usually built on the standard null model which assumes that mutations are neutral and population size remains constant over time. However, it is unclear how such tests are affected if the last…

Populations and Evolution · Quantitative Biology 2013-07-02 Marina Rafajlović , Alexander Klassmann , Anders Eriksson , Thomas Wiehe , Bernhard Mehlig

Population genetics theory has laid the foundations for genomics analyses including the recent burst in genome scans for selection and statistical inference of past demographic events in many prokaryote, animal and plant species.…

Populations and Evolution · Quantitative Biology 2014-01-22 Aurelien Tellier , Christophe Lemaire

In the human genomes, recombination frequency between homologous chromosomes during meiosis is highly correlated with their physical length while it differs significantly when their coding density is considered. Furthermore, it has been…

Populations and Evolution · Quantitative Biology 2010-02-01 Dorota Mackiewicz , Marta Zawierta , Wojciech Waga , Stanislaw Cebrat

Diffusion Probabilistic Models have demonstrated remarkable performance across a wide range of generative tasks. However, we have observed that these models often suffer from a Signal-to-Noise Ratio-timestep (SNR-t) bias. This bias refers…

Computer Vision and Pattern Recognition · Computer Science 2026-04-20 Meng Yu , Lei Sun , Jianhao Zeng , Xiangxiang Chu , Kun Zhan

Exploring the genetic basis of heritable traits remains one of the central challenges in biomedical research. In simple cases, single polymorphic loci explain a significant fraction of the phenotype variability. However, many traits of…

Populations and Evolution · Quantitative Biology 2015-03-20 Barbara Rakitsch , Christoph Lippert , Oliver Stegle , Karsten Borgwardt

Phylogenetic networks have gained prominence over the years due to their ability to represent complex non-treelike evolutionary events such as recombination or hybridization. Popular combinatorial objects used to construct them are triplet…

Combinatorics · Mathematics 2016-10-19 P. Gambette , K. T. Huber , S. Kelk

Evolutionary clustering aims at capturing the temporal evolution of clusters. This issue is particularly important in the context of social media data that are naturally temporally driven. In this paper, we propose a new probabilistic…

Information Retrieval · Computer Science 2016-01-12 Young-Min Kim , Julien Velcin , Stéphane Bonnevay , Marian-Andrei Rizoiu

We study the population genetics of two neutral alleles under reversible mutation in the \Lambda-processes, a population model that features a skewed offspring distribution. We describe the shape of the equilibrium allele frequency…

Populations and Evolution · Quantitative Biology 2013-06-21 Ricky Der , Joshua B. Plotkin

Modeling relations between individuals is a classical question in social sciences and clustering individuals according to the observed patterns of interactions allows to uncover a latent structure in the data. Stochastic block model (SBM)…

Methodology · Statistics 2015-01-27 Pierre Barbillon , Sophie Donnet , Emmanuel Lazega , Avner Bar-Hen

Masked Diffusion Models (MDMs) significantly accelerate inference by trading off sequential determinism. However, the theoretical mechanisms governing generation order and the risks inherent in parallelization remain under-explored. In this…

Machine Learning · Computer Science 2026-02-03 Shaorong Zhang , Longxuan Yu , Rob Brekelmans , Luhan Tang , Salman Asif , Greg Ver Steeg

Human populations have experienced dramatic growth since the Neolithic revolution. Recent studies that sequenced a very large number of individuals observed an extreme excess of rare variants, and provided clear evidence of recent rapid…

Populations and Evolution · Quantitative Biology 2015-06-17 Elodie Gazave , Li Ma , Diana Chang , Alex Coventry , Feng Gao , Donna Muzny , Eric Boerwinkle , Richard Gibbs , Charles F. Sing , Andrew G. Clark , Alon Keinan

Microarray-based genotyping is based on the high discrimination capability of oligonucleotide probes. For detection of Single Nucleotide Polymorphisms (SNPs) single-base discrimination is required. We investigate how various…

Biomolecules · Quantitative Biology 2007-05-23 Thomas Naiser , Oliver Ehler , Timo Mai , Wolfgang Michel , Albrecht Ott

We apply our statistically deterministic machine learning/clustering algorithm *K-means (recently developed in https://ssrn.com/abstract=2908286) to 10,656 published exome samples for 32 cancer types. A majority of cancer types exhibit…

Genomics · Quantitative Biology 2017-08-16 Zura Kakushadze , Willie Yu

We analyse a model consisting of a population of individuals which is subdivided into a finite set of demes, each of which has a fixed but differing number of individuals. The individuals can reproduce, die and migrate between the demes…

Populations and Evolution · Quantitative Biology 2014-08-20 George W A Constable , Alan J McKane

The differences between DNA-sequences within a population are the basis to infer the ancestral relationship of the individuals. Within the classical infinitely many sites model, it is possible to estimate the mutation rate based on the site…

Populations and Evolution · Quantitative Biology 2014-07-10 Franz Baumdicker

A simple analytical framework to study the molecular quasispecies evolution of finite populations is proposed, in which the population is assumed to be a random combination of the constiyuent molecules in each generation,i.e., linkage…

Statistical Mechanics · Physics 2016-08-31 Domingos Alves , J. F. Fontanari

Demographic models built from genetic data play important roles in illuminating prehistorical events and serving as null models in genome scans for selection. We introduce an inference method based on the joint frequency spectrum of genetic…

Populations and Evolution · Quantitative Biology 2010-05-10 Ryan N. Gutenkunst , Ryan D. Hernandez , Scott H. Williamson , Carlos D. Bustamante

Renaturation of complementary single strands of DNA is one of the important processes that requires better understanding in the view of molecular biology and biological physics. Here we develop a stochastic dynamical model on the DNA…

Subcellular Processes · Quantitative Biology 2016-04-15 Gnanapragasam Niranjani , Rajamanickam Murugan