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相关论文: Analysis of Genotype-Phenotype Association using G…

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Based on the normal distribution and its properties, i.e., average and variance, Fisher works have provided a conceptual framework to identify genotype-phenotype associations. While Fisher intuition has proved fruitful over the past…

种群与进化 · 定量生物学 2023-07-06 Cyril Rauch , Panagiota Kyratzi , Andras Paldi

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

应用统计 · 统计学 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

The evolutionary dynamics of molecular populations are strongly dependent on the structure of genotype spaces. The map between genotype and phenotype determines how easily genotype spaces can be navigated and the accessibility of…

种群与进化 · 定量生物学 2019-07-03 Juan Antonio García-Martín , Pablo Catalán , Susanna Manrubia , José A. Cuesta

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

定量方法 · 定量生物学 2015-06-30 Min Xu

Studying phenotype-gene association can uncover mechanism of diseases and develop efficient treatments. In complex disease where multiple phenotypes are available and correlated, analyzing and interpreting associated genes for each…

统计方法学 · 统计学 2021-12-14 Yujia Li , Yusi Fang , Peng Liu , George C. Tseng

Relation of genome sizes to organisms complexity is still described rather equivocally. Neither the number of genes (G-value), nor the total amount of DNA (C-value) correlates consistently with phenotype complexity. Using information theory…

基因组学 · 定量生物学 2007-05-23 Dmitri V. Parkhomchuk

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

统计方法学 · 统计学 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

统计方法学 · 统计学 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

We consider cross-sectional genetic association studies (common and rare variants) where non-genetic information is available, or feasible to obtain for $N$ individuals, but where it is infeasible to genotype all $N$ individuals. We…

应用统计 · 统计学 2020-02-06 Thea Bjørnland , Anja Bye , Einar Ryeng , Ulrik Wisløff , Mette Langaas

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…

统计方法学 · 统计学 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

Clinical end-point traits are often characterized by quantitative or qualitative precursors and it has been argued that it may be statistically a more powerful strategy to analyze these precursor traits to decipher the genetic architecture…

统计方法学 · 统计学 2025-04-17 Soumya Sahu , Saurabh Ghosh

The advent of plant phenomics, coupled with the wealth of genotypic data generated by next-generation sequencing technologies, provides exciting new resources for investigations into and improvement of complex traits. However, these new…

基因组学 · 定量生物学 2019-04-30 Gota Morota , Diego Jarquin , Malachy T. Campbell , Hiroyoshi Iwata

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

基因组学 · 定量生物学 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

Genotype-phenotype (GP) maps specify how the random mutations that change genotypes generate variation by altering phenotypes, which, in turn, can trigger selection. Many GP maps share the following general properties: 1) The number of…

种群与进化 · 定量生物学 2014-02-07 Ard A Louis , Steffen Schaper

The association of a given human phenotype to a genetic variant remains a critical challenge for biology. We present a novel system called PhenoLinker capable of associating a score to a phenotype-gene relationship by using heterogeneous…

Organismal phenotypes emerge from a complex set of genotypic interactions. While technological advances in sequencing provide a quantitative description of an organism's genotype, characterization of an organism's physical phenotype lags…

生物物理 · 物理学 2020-10-15 Vasyl Alba , James E. Carthew , Richard W. Carthew , Madhav Mani

With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new…

统计方法学 · 统计学 2025-08-19 Ming Li , Zihuai He , Min Zhang , Xiaowei Zhan , Changshuai Wei , Robert C Elston , Qing Lu

In genetic association studies, a single marker is often associated with multiple, correlated phenotypes (e.g., obesity and cardiovascular disease, or nicotine dependence and lung cancer). A pervasive question is then whether that marker…

统计方法学 · 统计学 2011-12-22 Carlo Berzuini , Stijn Vansteelandt , Luisa Foco , Roberta Pastorino , Luisa Bernardinelli

Understanding how genes influence phenotype across species is a fundamental challenge in genetic engineering, which will facilitate advances in various fields such as crop breeding, conservation biology, and personalized medicine. However,…

机器学习 · 计算机科学 2025-03-11 Mengdi Liu , Zhangyang Gao , Hong Chang , Stan Z. Li , Shiguang Shan , Xilin Chen

Genotype-to-phenotype mappings translate genotypic variations such as mutations into phenotypic changes. Neutrality is the observation that some mutations do not lead to phenotypic changes. Studying the search trajectories in genotypic and…

种群与进化 · 定量生物学 2023-06-26 Ting Hu , Gabriela Ochoa , Wolfgang Banzhaf
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