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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

An essential quantity to ensure evolvability of populations is the navigability of the genotype space. Navigability relies on the existence of sufficiently large genotype networks, that is ensembles of sequences with the same phenotype that…

Populations and Evolution · Quantitative Biology 2017-04-20 Susanna Manrubia , Jose A. Cuesta

Proteins perform critical processes in all living systems: converting solar energy into chemical energy, replicating DNA, as the basis of highly performant materials, sensing and much more. While an incredible range of functionality has…

Biomolecules · Quantitative Biology 2021-09-29 Leonardo V. Castorina , Rokas Petrenas , Kartic Subr , Christopher W. Wood

Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases. A key step is calling an individual's genotype from the multiple aligned short read…

Applications · Statistics 2012-06-29 Baiyu Zhou , Alice S. Whittemore

All possible phenotypes are not equally accessible to evolving populations. In fact, only phenotypes of large size, i.e. those resulting from many different genotypes, are found in populations of sequences, presumably because they are…

Populations and Evolution · Quantitative Biology 2023-08-16 Pablo Catalán , Juan Antonio García-Martín , Jacobo Aguirre , José A. Cuesta , Susanna Manrubia

We propose a general and formal statistical framework for multiple tests of association between known fixed features of a genome and unknown parameters of the distribution of variable features of this genome in a population of interest. The…

Applications · Statistics 2008-12-18 Sandrine Dudoit , Sündüz Keleş , Mark J. van der Laan

Motivation: Drug discovery demands rapid quantification of compound-protein interaction (CPI). However, there is a lack of methods that can predict compound-protein affinity from sequences alone with high applicability, accuracy, and…

Biomolecules · Quantitative Biology 2020-12-17 Mostafa Karimi , Di Wu , Zhangyang Wang , Yang Shen

Biological structure and function depend on complex regulatory interactions between many genes. A wealth of gene expression data is available from high-throughput genome-wide measurement technologies, but effective gene regulatory network…

Molecular Networks · Quantitative Biology 2016-03-28 Arwen Vanice Bradley , Ye Henry Li , Bokyung Choi , Wing Hung Wong

The evolutionary dynamics of molecular populations are strongly dependent on the structure of genotype spaces. The map between genotype and phenotype determines how easily genotype spaces can be navigated and the accessibility of…

Populations and Evolution · Quantitative Biology 2019-07-03 Juan Antonio García-Martín , Pablo Catalán , Susanna Manrubia , José A. Cuesta

We train a neural network to predict distributional responses in gene expression following genetic perturbations. This is an essential task in early-stage drug discovery, where such responses can offer insights into gene function and inform…

Motivation: Predicting cellular responses to genetic perturbations is essential for understanding biological systems and developing targeted therapeutic strategies. While variational autoencoders (VAEs) have shown promise in modeling…

Machine Learning · Computer Science 2025-02-03 Seungheun Baek , Soyon Park , Yan Ting Chok , Mogan Gim , Jaewoo Kang

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

Deciphering how DNA sequence encodes gene regulation remains a central challenge in biology. Advances in machine learning and functional genomics have enabled sequence-to-function (seq2func) models that predict molecular regulatory readouts…

Genomics · Quantitative Biology 2026-02-03 Masayuki Nagai , Alan E. Murphy , Kaeli Rizzo , Peter K. Koo

The present gap between the amount of available protein sequence due to the development of next generation sequencing technology (NGS) and slow and expensive experimental extraction of useful information like annotation of protein sequence…

Computer Vision and Pattern Recognition · Computer Science 2018-11-02 Sheikh Muhammad Saiful Islam , Md Mahedi Hasan

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

Epigenetics encompasses mechanisms that can alter the expression of genes without changing the underlying genetic sequence. The epigenetic regulation of gene expression is initiated and sustained by several mechanisms such as DNA…

Genomics · Quantitative Biology 2025-04-08 Muhammad Tahir , Mahboobeh Norouzi , Shehroz S. Khan , James R. Davie , Soichiro Yamanaka , Ahmed Ashraf

Black box deep learning models trained on genomic sequences excel at predicting the outcomes of different gene regulatory mechanisms. Therefore, interpreting these models may provide novel insights into the underlying biology, supporting…

Machine Learning · Computer Science 2024-07-18 Pedro Barbosa , Rosina Savisaar , Alcides Fonseca

Risk prediction capitalizing on emerging human genome findings holds great promise for new prediction and prevention strategies. While the large amounts of genetic data generated from high-throughput technologies offer us a unique…

Methodology · Statistics 2021-01-29 Xiaoxi Shen , Xiaoran Tong , Qing Lu

Data of sequential nature arise in many application domains in forms of, e.g. textual data, DNA sequences, and software execution traces. Different research disciplines have developed methods to learn sequence models from such datasets: (i)…

Machine Learning · Statistics 2018-11-02 Niek Tax , Irene Teinemaa , Sebastiaan J. van Zelst

Cellular phenotypes are determined by the dynamical activity of networks of co-regulated genes. Elucidating such networks is crucial for the understanding of normal cell physiology as well as for the dissection of complex pathologic…

Molecular Networks · Quantitative Biology 2007-05-23 Kai Wang , Nilanjana Banerjee , Adam Margolin , Ilya Nemenman , Katia Basso , Riccardo Favera , Andrea Califano