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Discovery of diagnostic and prognostic molecular markers is important and actively pursued the research field in cancer research. For complex diseases, this process is often performed using Machine Learning. The current study compares two…

Genomics · Quantitative Biology 2020-04-30 Aneta Polewko-Klim , Witold R. Rudnicki

Many machine learning models have been proposed to classify phenotypes from gene expression data. In addition to their good performance, these models can potentially provide some understanding of phenotypes by extracting explanations for…

Genomics · Quantitative Biology 2024-02-05 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Benjamin Audit , Pierre Borgnat , Jean-Michel Arbona

miRNA and gene expression profiles have been proved useful for classifying cancer samples. Efficient classifiers have been recently sought and developed. A number of attempts to classify cancer samples using miRNA/gene expression profiles…

Computational Engineering, Finance, and Science · Computer Science 2014-01-21 Rania Ibrahim , Noha A. Yousri , Mohamed A. Ismail , Nagwa M. El-Makky

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

The functions of proteins and RNAs are determined by a myriad of interactions between their constituent residues, but most quantitative models of how molecular phenotype depends on genotype must approximate this by simple additive effects.…

Quantitative Methods · Quantitative Biology 2017-12-19 Adam J. Riesselman , John B. Ingraham , Debora S. Marks

Electronic health records (EHRs) linked with familial relationship data offer a unique opportunity to investigate the genetic architecture of complex phenotypes at scale. However, existing heritability and coheritability estimation methods…

Methodology · Statistics 2025-11-12 Yinjun Zhao , Nicholas Tatonetti , Yuanjia Wang

DNA methylation is an intensely studied epigenetic mark implicated in many biological processes of direct clinical relevance. While sequencing based technologies are increasingly allowing high resolution measurements of DNA methylation,…

Quantitative Methods · Quantitative Biology 2014-10-27 Tom Mayo , Gabriele Schweikert , Guido Sanguinetti

Machine Learning methods have of late made significant efforts to solving multidisciplinary problems in the field of cancer classification using microarray gene expression data. Feature subset selection methods can play an important role in…

Computational Engineering, Finance, and Science · Computer Science 2013-03-04 G. Prat , Ll. Belanche

For complex diseases, the interactions between genetic and environmental risk factors can have important implications beyond the main effects. Many of the existing interaction analyses conduct marginal analysis and cannot accommodate the…

Methodology · Statistics 2016-05-31 Yangguang Zang , Yinjun Zhao , Qingzhao Zhang , Hao Chai , Sanguo Zhang , Shuangge Ma

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…

Methodology · Statistics 2021-12-14 Yujia Li , Yusi Fang , Peng Liu , George C. Tseng

The intrinsic stochasticity of gene expression can lead to large variability in protein levels for genetically identical cells. Such variability in protein levels can arise from infrequent synthesis of mRNAs which in turn give rise to…

Biological Physics · Physics 2015-05-27 Vlad Elgart , Tao Jia , Andrew T. Fenley , Rahul V. Kulkarni

We consider a method to jointly estimate sparse precision matrices and their underlying graph structures using dependent high-dimensional datasets. We present a penalized maximum likelihood estimator which encourages both sparsity and…

Applications · Statistics 2016-08-22 Adria Caballe , Natalia Bochkina , Claus Mayer

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Measuring gene expression simultaneously in both hosts and symbionts offers a powerful approach to explore the biology underlying species interactions. Such dual or simultaneous RNAseq approaches have primarily been used to gain insight…

Populations and Evolution · Quantitative Biology 2022-06-28 Amanda K Hund , Peter Tiffin , Jean-Gabriel Young , Daniel I Bolnick

Predicting the response of cancer cells to drugs is an important problem in pharmacogenomics. Recent efforts in generation of large scale datasets profiling gene expression and drug sensitivity in cell lines have provided a unique…

Quantitative Methods · Quantitative Biology 2018-11-01 Cheng Qian , Nicholas D. Sidiropoulos , Magda Amiridi , Amin Emad

Interpretability of deep learning is widely used to evaluate the reliability of medical imaging models and reduce the risks of inaccurate patient recommendations. For models exceeding human performance, e.g. predicting RNA structure from…

Quantitative Methods · Quantitative Biology 2022-08-31 Mara Graziani , Niccolò Marini , Nicolas Deutschmann , Nikita Janakarajan , Henning Müller , María Rodríguez Martínez

A gene expression compendium is a heterogeneous collection of gene expression experiments assembled from data collected for diverse purposes. The widely varied experimental conditions and genetic backgrounds across samples creates a…

Quantitative Methods · Quantitative Biology 2022-03-29 Alexandra J. Lee , Taylor Reiter , Georgia Doing , Julia Oh , Deborah A. Hogan , Casey S. Greene

Y-chromosomal and mitochondrial DNA profiles have been used as evidence in courts for decades, yet the problem of evaluating the weight of evidence has not been adequately resolved. Both are lineage markers (inherited from just one parent),…

Applications · Statistics 2021-07-08 Mikkel M Andersen , David J Balding

The advent of artificial intelligence, especially the progress of deep neural networks, is expected to revolutionize genetic research and offer unprecedented potential to decode the complex relationships between genetic variants and disease…

Quantitative Methods · Quantitative Biology 2023-12-13 Tingting Hou , Chang Jiang , Qing Lu

Increasingly used high throughput experimental techniques, like DNA or protein microarrays give as a result groups of interesting, e.g. differentially regulated genes which require further biological interpretation. With the systematic…

Genomics · Quantitative Biology 2007-05-23 Nils Blüthgen , Karsten Brand , Branka Čajavec , Maciej Swat , Hanspeter Herzel , Dieter Beule