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GWAS in humans are revealing the genetic architecture of biomedical and anthropomorphic traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpret these findings, we need to…

种群与进化 · 定量生物学 2018-03-29 Yuval B. Simons , Kevin Bullaughey , Richard R. Hudson , Guy Sella

In the classic view introduced by R. A. Fisher, a quantitative trait is encoded by many loci with small, additive effects. Recent advances in QTL mapping have begun to elucidate the genetic architectures underlying vast numbers of…

种群与进化 · 定量生物学 2013-10-04 Etienne Rajon , Joshua B. Plotkin

We construct genomic predictors for heritable and extremely complex human quantitative traits (height, heel bone density, and educational attainment) using modern methods in high dimensional statistics (i.e., machine learning). Replication…

基因组学 · 定量生物学 2017-09-20 Louis Lello , Steven G. Avery , Laurent Tellier , Ana Vazquez , Gustavo de los Campos , Stephen D. H. Hsu

It is of great interest to quantify the contributions of genetic variation to brain structure and function, which are usually measured by high-dimensional imaging data (e.g., magnetic resonance imaging). In addition to the variance, the…

应用统计 · 统计学 2020-05-05 Benjamin B. Risk , Hongtu Zhu

Modelling the evolution of a continuous trait in a biological population is one of the oldest problems in evolutionary biology, which led to the birth of quantitative genetics. With the recent development of GWAS methods, it has become…

概率论 · 数学 2026-04-20 Philibert Courau , Amaury Lambert , Emmanuel Schertzer

A key goal in studies of ecology and evolution is understanding the causes of phenotypic diversity in nature. Most traits of interest, such as those relating to morphology, life-history, immunity and behaviour are quantitative, and…

种群与进化 · 定量生物学 2022-11-22 Susan E. Johnston , Nancy Chen , Emily B. Josephs

Machine learning and deep learning have been celebrating many successes in the application to biological problems, especially in the domain of protein folding. Another equally complex and important question has received relatively little…

机器学习 · 计算机科学 2023-10-09 Lucie Bourguignon , Caroline Weis , Catherine R. Jutzeler , Michael Adamer

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

种群与进化 · 定量生物学 2014-08-19 Jeremy J. Berg , Graham Coop

For many traits, including susceptibility to common diseases in humans, causal loci uncovered by genetic mapping studies explain only a minority of the heritable contribution to trait variation. Multiple explanations for this "missing…

基因组学 · 定量生物学 2015-06-11 Joshua S. Bloom , Ian M. Ehrenreich , Wesley Loo , Thúy-Lan Võ Lite , Leonid Kruglyak

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…

种群与进化 · 定量生物学 2014-02-11 Kirk E. Lohmueller

The pursuit of artificial general intelligence necessitates robust methods for evaluating the cognitive capabilities of models beyond narrow task performance. Here, we introduce a psychometric framework to assess the cognitive profiles of…

人工智能 · 计算机科学 2026-05-11 Isaac Galatzer-Levy , Daniel McDuff , Xin Liu , Jed McGiffin

Decoding the genome confers the capability to predict characteristics of the organism(phenotype) from DNA (genotype). We describe the present status and future prospects of genomic prediction of complex traits in humans. Some highly…

基因组学 · 定量生物学 2021-01-18 Timothy G. Raben , Louis Lello , Erik Widen , Stephen D. H. Hsu

Genetic algorithms are a widely used method in chemometrics for extracting variable subsets with high prediction power. Most fitness measures used by these genetic algorithms are based on the ordinary least-squares fit of the resulting…

统计计算 · 统计学 2017-11-21 David Kepplinger , Peter Filzmoser , Kurt Varmuza

We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher…

种群与进化 · 定量生物学 2015-06-17 Ying Chen Eyre-Walker , Adam Eyre-Walker

Genetic diversity is central to the process of evolution. Both natural selection and random genetic drift are influenced by the level of genetic diversity of a population; selection acts on diversity while drift samples from it. At a given…

种群与进化 · 定量生物学 2024-11-12 Nikolas Vellnow , Toni I. Gossmann , David Waxman

Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWAS). However, choosing the relevant annotations for interpreting an association study of a given trait remains challenging. We describe a…

基因组学 · 定量生物学 2014-04-24 Joseph K. Pickrell

Numerous traits under migration-selection balance are shown to exhibit complex patterns of genetic architecture with large variance in effect sizes. However, the conditions under which such genetic architectures are stable have yet to be…

种群与进化 · 定量生物学 2022-11-01 Léonard Dekens , Sarah P. Otto , Vincent Calvez

Genome-Wide Association Studies (GWAS) explain only a small fraction of heritability for most complex human phenotypes. Genomic heritability estimates the variance explained by the SNPs on the whole genome using mixed models and accounts…

Social networks exhibit strikingly systematic patterns across a wide range of human contexts. While genetic variation accounts for a significant portion of the variation in many complex social behaviors, the heritability of egocentric…

基因组学 · 定量生物学 2009-02-11 James H. Fowler , Christopher T. Dawes , Nicholas A. Christakis

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…

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