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Deep neural networks (DNN) have been used successfully in many scientific problems for their high prediction accuracy, but their application to genetic studies remains challenging due to their poor interpretability. In this paper, we…

Machine Learning · Computer Science 2021-10-01 Peyman H. Kassani , Fred Lu , Yann Le Guen , Zihuai He

DNA methylation (meDNA) is a suspected modulator of alternative splicing, while splicing in turn is involved in tumour formations nearly as frequently as DNA mutations. Yet, the impact of meDNA on tumorigenesis via its effect on splicing…

Despite a lack of theoretical understanding, deep neural networks have achieved unparalleled performance in a wide range of applications. On the other hand, shallow representation learning with component analysis is associated with rich…

Machine Learning · Computer Science 2018-03-20 Calvin Murdock , Ming-Fang Chang , Simon Lucey

We describe a dynamic programming algorithm for predicting optimal RNA secondary structure, including pseudoknots. The algorithm has a worst case complexity of ${\cal O}(N^6)$ in time and ${\cal O}(N^4)$ in storage. The description of the…

Biological Physics · Physics 2009-09-25 Elena Rivas , Sean R. Eddy

The paper proposes to employ deep convolutional neural networks (CNNs) to classify noncoding RNA (ncRNA) sequences. To this end, we first propose an efficient approach to convert the RNA sequences into images characterizing their…

Computer Vision and Pattern Recognition · Computer Science 2020-08-25 Brian McClannahan , Krushi Patel , Usman Sajid , Cuncong Zhong , Guanghui Wang

In higher eukaryotes, alternative splicing is usually regulated by protein factors, which bind to the pre-mRNA and affect the recognition of splicing signals. There is recent evidence that the secondary structure of the pre-mRNA may also…

Quantitative Methods · Quantitative Biology 2015-10-12 Mireya Plass , Eduardo Eyras

Splice sites play a crucial role in gene expression, and accurate prediction of these sites in DNA sequences is essential for diagnosing and treating genetic disorders. We address the challenge of splice site prediction by introducing…

Genomics · Quantitative Biology 2023-11-23 Asmita Poddar , Vladimir Uzun , Elizabeth Tunbridge , Wilfried Haerty , Alejo Nevado-Holgado

Non-coding RNA sequences play a great role in controlling a number of cellular functions, thus raising the need to understand their complex conformational dynamics in quantitative detail. In this perspective, we first show that single…

Biomolecules · Quantitative Biology 2012-11-29 Jong-Chin Lin , Changbong Hyeon , D. Thirumalai

The kinetic folding of RNA sequences into secondary structures is modeled as a complex adaptive system, the components of which are possible RNA structural rearrangements (SRs) and their associated bases and base pairs. RNA bases and base…

Biomolecules · Quantitative Biology 2007-05-23 Wilfred Ndifon

Individual cancer cells carry a bewildering number of distinct genomic alterations i.e., copy number variations and mutations, making it a challenge to uncover genomic-driven mechanisms governing tumorigenesis. Here we performed…

Proteins are responsible for the most diverse set of functions in biology. The ability to extract information from protein sequences and to predict the effects of mutations is extremely valuable in many domains of biology and medicine.…

Quantitative Methods · Quantitative Biology 2018-01-04 Sam Sinai , Eric Kelsic , George M. Church , Martin A. Nowak

Extracting associations that recur across multiple studies while controlling the false discovery rate is a fundamental challenge. Here, we consider an extension of Efron's single-study two-groups model to allow joint analysis of multiple…

Methodology · Statistics 2019-01-14 David Amar , Ron Shamir , Daniel Yekutieli

Predicting the secondary structure of RNA is a core challenge in computational biology, essential for understanding molecular function and designing novel therapeutics. The field has evolved from foundational but accuracy-limited…

Biomolecules · Quantitative Biology 2026-05-20 Giuseppe Sacco , Giovanni Bussi , Guido Sanguinetti

We are interested in the comparison of transcript boundaries from cells which originated in different environments. The goal is to assess whether this phenomenon, called differential splicing, is used to modify the transcription of the…

Applications · Statistics 2013-07-12 Alice Cleynen , Stéphane Robin

Reconstruction of gene regulatory networks is the process of identifying gene dependency from gene expression profile through some computation techniques. In our human body, though all cells pose similar genetic material but the activation…

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

Characterizing the differential excision of mRNA is critical for understanding the functional complexity of a cell or tissue, from normal developmental processes to disease pathogenesis. Most transcript reconstruction methods infer…

Quantitative Methods · Quantitative Biology 2022-11-15 Marjan Hosseini , Devin McConnell , Derek Aguiar

The dysregulation of transcripts is characterized as one of the main mechanisms in tumor pathogenesis. The recent discovery developed a new hypothesis, competitive endogenous RNAs (ceRNAs), which could regulate other RNA transcripts via…

Molecular Networks · Quantitative Biology 2023-02-22 Mengjie Chen

An RNA sequence is a word over an alphabet on four elements $\{A,C,G,U\}$ called bases. RNA sequences fold into secondary structures where some bases match one another while others remain unpaired. Pseudoknot-free secondary structures can…

Data Structures and Algorithms · Computer Science 2018-03-28 Édouard Bonnet , Paweł Rzążewski , Florian Sikora

RNA function is tied to secondary structure, operating through dynamic and heterogeneous structural ensembles. While current analysis tools typically output single static structures or averaged contact maps, chemical probing methods like…

Biomolecules · Quantitative Biology 2026-05-20 Giuseppe Sacco , Jianhui Li , Redmond P. Smyth , Guido Sanguinetti , Giovanni Bussi