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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

Various statistical methods important for genetic analysis are considered and developed. Namely, we concentrate on the multifactor dimensionality reduction, logic regression, random forests and stochastic gradient boosting. These methods…

Probability · Mathematics 2011-06-29 Alexander Bulinski , Oleg Butkovsky , Alexey Shashkin , Pavel Yaskov

Background: Identification of causal SNPs in most genome wide association studies relies on approaches that consider each SNP individually. However, there is a strong correlation structure among SNPs that need to be taken into account.…

Applications · Statistics 2012-11-02 Verena Zuber , A. Pedro Duarte Silva , Korbinian Strimmer

Over the past two decades, the field of high-dimensional statistics has experienced substantial progress, driven largely by technological advances that have dramatically reduced the cost and effort for data collection and storage across a…

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…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

Historically, the majority of statistical association methods have been designed assuming availability of SNP-level information. However, modern genetic and sequencing data present new challenges to access and sharing of genotype-phenotype…

Genomics · Quantitative Biology 2020-07-01 Olga A Vsevolozhskaya , Min Shi , Fengjiao Hu , Dmitri V Zaykin

With the rapid growth of modern technology, many large-scale biomedical studies have been/are being/will be conducted to collect massive datasets with large volumes of multi-modality imaging, genetic, neurocognitive, and clinical…

Methodology · Statistics 2018-03-07 Farouk S. Nathoo , Linglong Kong , Hongtu Zhu

Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

Applications · Statistics 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

Genome-wide association studies, in which as many as a million single nucleotide polymorphisms (SNP) are measured on several thousand samples, are quickly becoming a common type of study for identifying genetic factors associated with many…

Methodology · Statistics 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

Introduction: Even in effectively conducted randomised trials, the probability of a successful study remains relatively low. With recent advances in the next-generation sequencing technologies, there is a rapidly growing number of…

With the rapid development of biomedical software and hardware, a large amount of relational data interlinking genes, proteins, chemical components, drugs, diseases, and symptoms has been collected for modern biomedical research. Many…

Artificial Intelligence · Computer Science 2021-01-21 Yankai Chen , Yaozu Wu , Shicheng Ma , Irwin King

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…

Genomics · Quantitative Biology 2019-04-30 Gota Morota , Diego Jarquin , Malachy T. Campbell , Hiroyoshi Iwata

After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…

Computational Complexity · Computer Science 2007-05-23 Gene Kim , MyungHo Kim

Genetic interaction measures how different genes collectively contribute to a phenotype, and can reveal functional compensation and buffering between pathways under genetic perturbations. Recently, genome-wide screening for genetic…

Molecular Networks · Quantitative Biology 2015-03-17 Gang Fang , Wen Wang , Vanja Paunic , Benjamin Oately , Majda Haznadar , Michael Steinbach , Brian Van Ness , Chad L. Myers , Vipin Kumar

The recent development of artificial intelligence (AI) technology, especially the advance of deep neural network (DNN) technology, has revolutionized many fields. While DNN plays a central role in modern AI technology, it has been rarely…

Machine Learning · Statistics 2023-12-07 Tingting Hou , Chang Jiang , Qing Lu

With the reduction of sequencing costs and the pervasiveness of computing devices, genomic data collection is continually growing. However, data collection is highly fragmented and the data is still siloed across different repositories.…

Cryptography and Security · Computer Science 2022-03-14 Leonard Dervishi , Xinyue Wang , Wentao Li , Anisa Halimi , Jaideep Vaidya , Xiaoqian Jiang , Erman Ayday

Disease-gene association through Genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms (SNPs) that correlate with specific diseases needs statistical analysis of associations.…

Quantitative Methods · Quantitative Biology 2020-12-21 Sezin Kircali Ata , Min Wu , Yuan Fang , Le Ou-Yang , Chee Keong Kwoh , Xiao-Li Li

DNA sequencing is becoming increasingly commonplace, both in medical and direct-to-consumer settings. To promote discovery, collected genomic data is often de-identified and shared, either in public repositories, such as OpenSNP, or with…

Machine Learning · Computer Science 2022-12-21 Rajagopal Venkatesaramani , Bradley A. Malin , Yevgeniy Vorobeychik

Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…

Methodology · Statistics 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

Machine Learning · Computer Science 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers
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