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Morphological profiling is a valuable tool in phenotypic drug discovery. The advent of high-throughput automated imaging has enabled the capturing of a wide range of morphological features of cells or organisms in response to perturbations…

Genomic phenotypes, such as DNA methylation and chromatin accessibility, can be used to characterize the transcriptional and regulatory activity of DNA within a cell. Recent technological advances have made it possible to measure such…

Methodology · Statistics 2016-11-15 Jean Morrison , Noah Simon , Daniela Witten

One of the notable fields in studying the genetics of cancer is disease gene identification which affects disease treatment and drug discovery. Many researches have been done in this field. Genome-wide association studies (GWAS) are one of…

Computational Engineering, Finance, and Science · Computer Science 2016-04-27 Zahra Razaghi-Moghadama , Razieh Abdollahia , Sama Goliaeib , Morteza Ebrahimia

Background: Mining gene modules from genomic data is an important step to detect gene members of pathways or other relations such as protein-protein interactions. In this work, we explore the plausibility of detecting gene modules by…

Machine Learning · Computer Science 2017-05-12 YaoGong Zhang , YingJie Xu , Xin Fan , YuXiang Hong , Jiahui Liu , ZhiCheng He , YaLou Huang , MaoQiang Xie

Cancer diagnosis, prognosis, and therapeutic response predictions are based on morphological information from histology slides and molecular profiles from genomic data. However, most deep learning-based objective outcome prediction and…

Computer Vision and Pattern Recognition · Computer Science 2020-09-04 Richard J. Chen , Ming Y. Lu , Jingwen Wang , Drew F. K. Williamson , Scott J. Rodig , Neal I. Lindeman , Faisal Mahmood

We present a coherent Bayesian framework for selection of the most likely model from the five genetic models (genotypic, additive, dominant, co-dominant, and recessive) commonly used in genetic association studies. The approach uses a…

Methodology · Statistics 2015-04-22 Harold Bae , Thomas Perls , Martin Steinberg , Paola Sebastiani

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

Life science is entering a new era of petabyte-level sequencing data. Converting such big data to biological insights represents a huge challenge for computational analysis. To this end, we developed DeepMetabolism, a biology-guided deep…

Genomics · Quantitative Biology 2017-05-10 Weihua Guo , You Xu , Xueyang Feng

Gene expression programming, a genotype/phenotype genetic algorithm (linear and ramified), is presented here for the first time as a new technique for the creation of computer programs. Gene expression programming uses character linear…

Artificial Intelligence · Computer Science 2007-05-23 Candida Ferreira

Popular online enrichment analysis tools from the field of molecular systems biology provide users with the ability to submit their experimental results as gene sets for individual analysis. Such queries are kept private, and have never…

Molecular Networks · Quantitative Biology 2016-01-08 Avi Ma'ayan , Neil R. Clark

We study mathematically a method for discovering which gene is related to a cell phenotype of interest. The method is based on RNA interference -- a molecular process for gene deactivation -- and on coupling the phenotype with fluorescence…

Applications · Statistics 2019-02-20 Yair Goldberg , Yuval Nov

Three steps aid in the analysis of selection. First, describe phenotypes by their component causes. Components include genes, maternal effects, symbionts, and any other predictors of phenotype that are of interest. Second, describe fitness…

Populations and Evolution · Quantitative Biology 2013-02-14 Steven A. Frank

Due to the complexity of cancer, clustering algorithms have been used to disentangle the observed heterogeneity and identify cancer subtypes that can be treated specifically. While kernel based clustering approaches allow the use of more…

Machine Learning · Statistics 2018-11-21 Nora K. Speicher , Nico Pfeifer

Genotype-to-phenotype prediction is a central goal of statistical genetics, yet practical comparisons of prediction workflows remain limited in small, heterogeneous, participant-shared genomic datasets. Here, we benchmarked end-to-end…

Genomics · Quantitative Biology 2026-05-05 Muhammad Muneeb , David B. Ascher , YooChan Myung , Samuel F. Feng , Andreas Henschel

Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic…

Applications · Statistics 2010-10-08 Elias Chaibub Neto , Mark P. Keller , Alan D. Attie , Brian S. Yandell

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

Cancer subtyping is crucial for understanding the nature of tumors and providing suitable therapy. However, existing labelling methods are medically controversial, and have driven the process of subtyping away from teaching signals.…

Machine Learning · Computer Science 2022-11-15 Zheng Chen , Lingwei Zhu , Ziwei Yang , Takashi Matsubara

Motivation: The consistent amount of different types of omics data requires novel methods of analysis and data integration. In this work we describe Regression2Net, a computational approach to analyse gene expression and methylation…

Computational Engineering, Finance, and Science · Computer Science 2015-07-06 Francesco Gadaleta , Kyrylo Bessonov

Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding…

Computational Engineering, Finance, and Science · Computer Science 2014-07-23 Günter Jäger , Alexander Peltzer , Kay Nieselt

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

Machine Learning · Computer Science 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun
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