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The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that…

The issue of estimating residual variance in regression models has experienced relatively little attention in the machine learning community. However, the estimate is of primary interest in many practical applications, e.g. as a primary…

Statistics Theory · Mathematics 2018-12-18 Burim Ramosaj , Markus Pauly

This paper presents a novel approach to credit risk prediction by employing Graph Convolutional Neural Networks (GCNNs) to assess the creditworthiness of borrowers. Leveraging the power of big data and artificial intelligence, the proposed…

Machine Learning · Computer Science 2024-10-08 Mengfang Sun , Wenying Sun , Ying Sun , Shaobo Liu , Mohan Jiang , Zhen Xu

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…

Genomics · Quantitative Biology 2009-02-11 James H. Fowler , Christopher T. Dawes , Nicholas A. Christakis

Rapid advancements in genome sequencing have led to the collection of vast amounts of genomics data. Researchers may be interested in using machine learning models on such data to predict the pathogenicity or clinical significance of a…

Quantitative Methods · Quantitative Biology 2024-08-15 Arshmeet Kaur , Morteza Sarmadi

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…

Machine Learning · Computer Science 2023-10-09 Lucie Bourguignon , Caroline Weis , Catherine R. Jutzeler , Michael Adamer

Observed differences in mean phenotypic values across human groups have attracted renewed interest with the rise of large-scale genomic studies and polygenic risk prediction. However, the genetic basis of these differences is far more…

Populations and Evolution · Quantitative Biology 2026-05-25 Nicole Kleman , Meng Lin , Christopher R. Gignoux , Arslan A. Zaidi

Combining data from several case-control genome-wide association (GWA) studies can yield greater efficiency for detecting associations of disease with single nucleotide polymorphisms (SNPs) than separate analyses of the component studies.…

Methodology · Statistics 2010-10-26 Ruth M. Pfeiffer , Mitchell H. Gail , David Pee

As a living information and communications system, the genome encodes patterns in single nucleotide polymorphisms (SNPs) reflecting human adaption that optimizes population survival in differing environments. This paper mathematically…

Populations and Evolution · Quantitative Biology 2018-03-22 James Lindesay , Tshela E. Mason , William Hercules , Georgia M. Dunston

Selective sweeps are typically associated with a local reduction of genetic diversity around the adaptive site. However, selective sweeps can also quickly carry neutral mutations to observable population frequencies if they arise early in a…

Populations and Evolution · Quantitative Biology 2012-06-29 Philipp W. Messer , Richard A. Neher

A conventional Bayesian approach to prediction uses the posterior distribution to integrate out parameters in a density for unobserved data conditional on the observed data and parameters. When the true posterior is intractable, it is…

Methodology · Statistics 2026-02-27 Lucas Kock , Scott A. Sisson , G. S. Rodrigues , David J. Nott

Cancer prognosis is often based on a set of omics covariates and a set of established clinical covariates such as age and tumor stage. Combining these two sets poses challenges. First, dimension difference: clinical covariates should be…

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…

Populations and Evolution · Quantitative Biology 2022-11-22 Susan E. Johnston , Nancy Chen , Emily B. Josephs

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

Genomics · Quantitative Biology 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

Standard approaches to analysing data in genome-wide association studies (GWAS) ignore any potential functional relationships between genetic markers. In contrast gene pathways analysis uses prior information on functional structure within…

Methodology · Statistics 2013-02-26 M. Silver , P. Chen , L. Ruoying , C. Y. Cheng , T. Y. Wong , E. Tai , Y. Y. Teo , G. Montana

It is widely held that a substantial genetic component underlies Bipolar Disorder (BD) and other neuropsychiatric disease traits. Recent efforts have been aimed at understanding the genetic basis of disease susceptibility, with genome-wide…

The prediction of phenotypic traits using high-density genomic data has many applications such as the selection of plants and animals of commercial interest; and it is expected to play an increasing role in medical diagnostics. Statistical…

Methodology · Statistics 2016-09-29 Marco Scutari , Ian Mackay , David Balding

In plant and animal breeding studies a distinction is made between the genetic value (additive + epistatic genetic effects) and the breeding value (additive genetic effects) of an individual since it is expected that some of the epistatic…

Applications · Statistics 2014-02-11 Deniz Akdemir

Background: Selecting feature genes to predict phenotypes is one of the typical tasks in analyzing genomics data. Though many general-purpose algorithms were developed for prediction, dealing with highly correlated genes in the prediction…

Applications · Statistics 2022-04-11 Li Xing , Songwan Joun , Kurt Mackay , Mary Lesperance , Xuekui Zhang

The objective of a genome-wide association study (GWAS) is to associate subsequences of individuals' genomes to the observable characteristics called phenotypes (e.g., high blood pressure). Motivated by the GWAS problem, in this paper we…

Information Theory · Computer Science 2020-10-15 Behrooz Tahmasebi , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari
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