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Recovery of population size history from molecular sequence data is an important problem in population genetics. Inference commonly relies on a coalescent model linking the population size history to genealogies. The high computational cost…

Statistics Theory · Mathematics 2018-01-17 James E. Johndrow , Julia A. Palacios

In the early days of gene expression data, researchers have focused on gene-level analysis, and particularly on finding differentially expressed genes. This usually involved making a simplifying assumption that genes are independent, which…

Applications · Statistics 2021-06-29 Haim Bar , Seojin Bang

The multivariate hypergeometric distribution describes sampling without replacement from a discrete population of elements divided into multiple categories. Addressing a gap in the literature, we tackle the challenge of estimating discrete…

Machine Learning · Computer Science 2024-06-11 Liam Hodgson , Danilo Bzdok

Resampling is an important signature of manipulated images. In this paper, we propose two methods to detect and localize image manipulations based on a combination of resampling features and deep learning. In the first method, the Radon…

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

Collecting genomics data across multiple heterogeneous populations (e.g., across different cancer types) has the potential to improve our understanding of disease. Despite sequencing advances, though, resources often remain a constraint…

Methodology · Statistics 2024-03-05 Yunyi Shen , Lorenzo Masoero , Joshua G. Schraiber , Tamara Broderick

Identifying and quantifying the benefits of sex and recombination is a long standing problem in evolutionary theory. In particular, contradictory claims have been made about the existence of a benefit of recombination on high dimensional…

Populations and Evolution · Quantitative Biology 2014-11-11 Stefan Nowak , Johannes Neidhart , Ivan G. Szendro , Joachim Krug

In genome-wide association studies, hundreds of thousands of genetic features (genes, proteins, etc.) in a given case-control population are tested to verify existence of an association between each genetic marker and a specific disease. A…

Applications · Statistics 2021-02-01 Ali Karimnezhad

The introduction and persistence of novel sexually antagonistic alleles can depend upon factors that differ between males and females. Understanding the conditions for invasion in a two-locus model can elucidate these processes. For…

Populations and Evolution · Quantitative Biology 2013-10-22 Minyoung Wyman , Mark Wyman

The efficient recognition of pathogens by the adaptive immune system relies on the diversity of receptors displayed at the surface of immune cells. T-cell receptor diversity results from an initial random DNA editing process, called VDJ…

Populations and Evolution · Quantitative Biology 2015-04-28 Yuval Elhanati , Anand Murugan , Curtis G. Callan , Thierry Mora , Aleksandra M. Walczak

Do two data samples come from different distributions? Recent studies of this fundamental problem focused on embedding probability distributions into sufficiently rich characteristic Reproducing Kernel Hilbert Spaces (RKHSs), to compare…

Machine Learning · Computer Science 2013-05-03 Somayeh Danafar , Paola M. V. Rancoita , Tobias Glasmachers , Kevin Whittingstall , Juergen Schmidhuber

We introduce a low dimensional function of the site frequency spectrum that is tailor-made for distinguishing coalescent models with multiple mergers from Kingman coalescent models with population growth, and use this function to construct…

Populations and Evolution · Quantitative Biology 2019-08-13 Jere Koskela

The widespread adoption of generative image models has highlighted the urgent need to detect artificial content, which is a crucial step in combating widespread manipulation and misinformation. Consequently, numerous detectors and…

Computer Vision and Pattern Recognition · Computer Science 2024-03-29 Patrick Grommelt , Louis Weiss , Franz-Josef Pfreundt , Janis Keuper

About 2% of human genetic polymorphisms have been hypothesized to arise via multinucleotide mutations (MNMs), complex events that generate SNPs at multiple sites in a single generation. MNMs have the potential to accelerate the pace at…

Populations and Evolution · Quantitative Biology 2014-04-30 Kelley Harris , Rasmus Nielsen

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

For measuring the strength of visually-observed subpopulation differences, the Population Difference Criterion is proposed to assess the statistical significance of visually observed subpopulation differences. It addresses the following…

Methodology · Statistics 2023-09-21 Xi Yang , Jan Hannig , Katherine A. Hoadley , Iain Carmichael , J. S. Marron

This work presents a population genetic model of evolution, which includes haploid selection, mutation, recombination, and drift. The mutation-selection equilibrium can be expressed exactly in closed form for arbitrary fitness functions…

Populations and Evolution · Quantitative Biology 2023-02-28 Jenny M. Poulton , Lee Altenberg , Chris Watkins

Sex difference in allele frequency is an emerging topic that is critical to our understanding of ascertainment bias, as well as data quality particularly of the largely overlooked X chromosome. To detect sex difference in allele frequency…

Applications · Statistics 2022-12-26 Zhong Wang , Andrew D. Paterson , Lei Sun

Human pose and shape estimation methods continue to suffer in situations where one or more parts of the body are occluded. More importantly, these methods cannot express when their predicted pose is incorrect. This has serious consequences…

Computer Vision and Pattern Recognition · Computer Science 2023-06-01 Hamoon Jafarian , Faisal Z. Qureshi

Motivation: The pan-genome can be stored as elastic-degenerate (ED) string, a recently introduced compact representation of multiple overlapping sequences. However, a search over the ED string does not indicate which individuals (if any)…

Data Structures and Algorithms · Computer Science 2020-04-16 Aleksander Cisłak , Szymon Grabowski
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