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The research community continues to seek increasingly more advanced synthetic data generators to reliably evaluate the strengths and limitations of machine learning methods. This work aims to increase the availability of datasets…

Machine Learning · Computer Science 2026-01-30 Joanna Komorniczak

Microarray data are often used to determine which genes are differentially expressed between groups, for example, between treatment and control groups. There are methods of determining which genes have a high probability of differential…

Quantitative Methods · Quantitative Biology 2007-05-23 David R. Bickel

Motivation: The reconstruction of gene networks from gene expression microarrays is gaining popularity as methods improve and as more data become available. The reliability of such networks could be judged by the probability that a…

Genomics · Quantitative Biology 2007-05-23 David R. Bickel

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

Methodology · Statistics 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

Motivated by applications in neuroanatomy, we propose a novel methodology for estimating the heritability which corresponds to the proportion of phenotypic variance which can be explained by genetic factors. Estimating this quantity for…

Statistics Theory · Mathematics 2016-06-09 Anna Bonnet , Céline Lévy-Leduc , Elisabeth Gassiat , Roberto Toro , Thomas Bourgeron

Under random mating, a progeny's alleles are independently sampled from the parental gene pools. Here is a new proof which avoids the usual algebraic complexity, based on a restated Mendel's First Law. Another simplified proof along the old…

Populations and Evolution · Quantitative Biology 2015-12-17 Von Bing Yap

In microarray experiments, it is often of interest to identify genes which have a pre-specified gene expression profile with respect to time. Methods available in the literature are, however, typically not stringent enough in identifying…

Applications · Statistics 2009-01-18 J. Tuke , G. F. V. Glonek , P. J. Solomon

Large scale databases are available that contain homologous gene families constructed from hundreds of complete genome sequences from across the three domains of Life. Here we discuss approches of increasing complexity aimed at extracting…

Genomics · Quantitative Biology 2011-02-14 Gergely J Szöllősi , Vincent Daubin

In the field of genetics, the concept of heritability refers to the proportion of variations of a biological trait or disease that can be explained by genetic factors. Quantifying the heritability of a disease is a fundamental challenge in…

Statistics Theory · Mathematics 2016-11-10 Anna Bonnet

We consider a population of N individuals, whose dynamics through time is represented by a biparental Moran model with two types: an advantaged type and a disadvantaged type. The advantage is due to a mutation, transmitted in a Mendelian…

Probability · Mathematics 2024-05-15 Camille Coron , Yves Le Jan

We show how field- and information theory can be used to quantify the relationship between genotype and phenotype in cases where phenotype is a continuous variable. Given a sample population of phenotype measurements, from various known…

Quantitative Methods · Quantitative Biology 2022-06-10 Jonathan Wattis , Sian Bray , Panagiota Kyratzi , Cyril Rauch

Modern biological techniques enable very dense genetic sampling of unfolding evolutionary histories, and thus frequently sample some genotypes multiple times. This motivates strategies to incorporate genotype abundance information in…

Populations and Evolution · Quantitative Biology 2018-04-09 William S. DeWitt , Luka Mesin , Gabriel D. Victora , Vladimir N. Minin , Frederick A. Matsen

The population-wise error rate (PWER) is a type I error rate for clinical trials with multiple target populations. In such trials, a treatment is tested for its efficacy in each population. The PWER is defined as the probability that a…

Methodology · Statistics 2024-12-13 Remi Luschei , Werner Brannath

Reconstruction of family trees, or pedigree reconstruction, for a group of individuals is a fundamental problem in genetics. The problem is known to be NP-hard even for datasets known to only contain siblings. Some recent methods have been…

Data Structures and Algorithms · Computer Science 2014-08-26 Dan He , Zhanyong Wang , Laxmi Parida , Eleazar Eskin

Gene set collections are a common ground to study the enrichment of genes for specific phenotypic traits. Gene set enrichment analysis aims to identify genes that are over-represented in gene sets collections and might be associated with a…

Genomics · Quantitative Biology 2022-07-26 Chiara Balestra , Carlo Maj , Emmanuel Mueller , Andreas Mayr

Given the cost and duration of phase III and phase IV clinical trials, the development of statistical methods for go/no-go decisions is vital. In this paper, we introduce a Bayesian methodology to compute the probability of success based on…

Methodology · Statistics 2020-10-27 Ethan M. Alt , Matthew A. Psioda , Joseph G. Ibrahim

Affected relatives are essential for pedigree linkage analysis, however, they cause a violation of the independent sample assumption in case-control association studies. To avoid the correlation between samples, a common practice is to take…

Quantitative Methods · Quantitative Biology 2011-05-03 Yaning Yang , Elaine F. Remmers , Chukwuma B. Ogunwole , Daniel L. Kastner , Peter K. Gregersen , Wentian Li

To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on…

Applications · Statistics 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

This manuscript delves into the intersection of genomics and phenotypic prediction, focusing on the statistical innovation required to navigate the complexities introduced by noisy covariates and confounders. The primary emphasis is on the…

Methodology · Statistics 2024-11-15 Upama Paul Chowdhury , Ronit Bhattacharjee , Susmita Das , Abhik Ghosh

Background: Heritability is a central measure in genetics quantifying how much of the variability observed in a trait is attributable to genetic differences. Existing methods for estimating heritability are most often based on random-effect…

Applications · Statistics 2022-08-26 The Tien Mai , Paul Turner , Jukka Corander
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