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Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and pathway identification using DNA language model, graph…

Quantitative Methods · Quantitative Biology 2024-11-12 Ali Saadat , Jacques Fellay

The notion of energy landscapes provides conceptual tools for understanding the complexities of protein folding and function. Energy Landscape Theory indicates that it is much easier to find sequences that satisfy the "Principle of Minimal…

Biomolecules · Quantitative Biology 2013-06-13 R. Gonzalo Parra , Rocío Espada , Ignacio E. Sánchez , Manfred J. Sippl , Diego U. Ferreiro

Natural protein sequences contain a record of their history. A common constraint in a given protein family is the ability to fold to specific structures, and it has been shown possible to infer the main native ensemble by analyzing…

Biomolecules · Quantitative Biology 2017-03-16 Rocío Espada , R. Gonzalo Parra , Thierry Mora , Aleksandra M. Walczak , Diego U. Ferreiro

Gene regulation is one of the most important fundamental biological processes in living cells. It involves multiple protein molecules that locate specific sites on DNA and assemble gene initiation or gene repression multi-molecular…

Biological Physics · Physics 2019-10-23 Jaeoh Shin , Anatoly B. Kolomeisky

There are several approaches to study occurrences of consecutive patterns in permutations such as the inclusion-exclusion method, the tree representations of permutations, the spectral approach and others. We propose yet another approach to…

Combinatorics · Mathematics 2007-05-23 Sergey Avgustinovich , Sergey Kitaev

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

With the widespread application of efficient pattern mining algorithms, sequential patterns that allow gap constraints have become a valuable tool to discover knowledge from biological data such as DNA and protein sequences. Among all kinds…

Databases · Computer Science 2023-06-13 Zefeng Chen , Wensheng Gan , Gengsen Huang , Zhenlian Qi , Yan Li , Philip S. Yu

In this paper we present a neural network-based method for the automatic detection of phase transitions and classification of hidden percolation patterns in a (1+1)-dimensional replication process. The proposed network model is based on the…

Machine Learning · Computer Science 2025-10-20 Danil Parkhomenko , Pavel Ovchinnikov , Konstantin Soldatov , Vitalii Kapitan , Gennady Y. Chitov

The pathogenesis of cancer in human is still poorly understood. With the rapid development of high-throughput sequencing technologies, huge volumes of cancer genomics data have been generated. Deciphering those data poses great…

Genomics · Quantitative Biology 2016-04-06 Junhua Zhang , Shihua Zhang

We propose a method for gene expression based analysis of cancer phenotypes incorporating network biology knowledge through unsupervised construction of computational graphs. The structural construction of the computational graphs is driven…

Molecular Networks · Quantitative Biology 2020-10-02 Paul Scherer , Maja Trȩbacz , Nikola Simidjievski , Zohreh Shams , Helena Andres Terre , Pietro Liò , Mateja Jamnik

Transcriptomic data is a treasure-trove in modern molecular biology, as it offers a comprehensive viewpoint into the intricate nuances of gene expression dynamics underlying biological systems. This genetic information must be utilised to…

Molecular Networks · Quantitative Biology 2023-12-13 Vikram Singh , Vikram Singh

Irreducible frequent patters (IFPs) are introduced for transactional databases. An IFP is such a frequent pattern (FP),(x1,x2,...xn), the probability of which, P(x1,x2,...xn), cannot be represented as a product of the probabilities of two…

Data Structures and Algorithms · Computer Science 2007-05-23 Gennady P. Berman , Vyacheslav N. Gorshkov , Xidi Wang

Recurrent neural networks (RNNs) have been applied to a broad range of applications, including natural language processing, drug discovery, and video recognition. Their vulnerability to input perturbation is also known. Aligning with a view…

Machine Learning · Computer Science 2021-05-14 Wei Huang , Youcheng Sun , Xingyu Zhao , James Sharp , Wenjie Ruan , Jie Meng , Xiaowei Huang

Detecting the interactions of genetic compounds like genes, SNPs, proteins, metabolites, etc. can potentially unravel the mechanisms behind complex traits and common genetic disorders. Several methods have been taken into consideration for…

Computational Engineering, Finance, and Science · Computer Science 2015-05-26 Francesco Gadaleta

Stochastic rearrangement of germline DNA by VDJ recombination is at the origin of immune system diversity. This process is implemented via a series of stochastic molecular events involving gene choices and random nucleotide insertions…

Quantitative Methods · Quantitative Biology 2012-11-12 Anand Murugan , Thierry Mora , Aleksandra M. Walczak , Curtis G. Callan

Proteins encoded by genes containing regions of variable number tandem repeats (VNTRs) are known to be polymorphic within species but the influence of their instability in molecular interactions remains unclear. VNTRs are overrepresented in…

Genomics · Quantitative Biology 2012-09-28 Suzanne Bowen

The V(D)J recombination forms the immunoglobulin genes by joining the variable (V), diversity (D), and joining (J) germline genes. Since variations in germline genes have been linked to various diseases, personalized immunogenomics aims at…

Genomics · Quantitative Biology 2019-01-10 Yana Safonova , Pavel A. Pevzner

The decreasing costs and increasing speed and accuracy of DNA sample collection, preparation, and sequencing has rapidly produced an enormous volume of genetic data. However, fast and accurate analysis of the samples remains a bottleneck.…

Quantitative Methods · Quantitative Biology 2017-04-13 Stephanie Dodson , Darrell O. Ricke , Jeremy Kepner , Nelson Chiu , Anna Shcherbina

Motivation: Gene regulatory interactions are of fundamental importance to various biological functions and processes. However, only a few previous computational studies have claimed success in revealing genome-wide regulatory landscapes…

Molecular Networks · Quantitative Biology 2017-02-09 Shupeng Gui , Rui Chen , Liang Wu , Ji Liu , Hongyu Miao

Research on long non-coding RNAs (lncRNAs) has garnered significant attention due to their critical roles in gene regulation and disease mechanisms. However, the complexity and diversity of lncRNA sequences, along with the limited knowledge…

Genomics · Quantitative Biology 2024-11-07 Wei Wang , Zhichao Hou , Xiaorui Liu , Xinxia Peng