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Current approaches to genomic sequence modeling often struggle to align the inductive biases of machine learning models with the evolutionarily-informed structure of biological systems. To this end, we formulate a novel application of…

Machine Learning · Computer Science 2025-07-30 Raiyan R. Khan , Philippe Chlenski , Itsik Pe'er

Transcriptome assembly from RNA-Seq reads is an active area of bioinformatics research. The ever-declining cost and the increasing depth of RNA-Seq have provided unprecedented opportunities to better identify expressed transcripts. However,…

Computational Engineering, Finance, and Science · Computer Science 2013-06-07 Tin Chi Nguyen , Zhiyu Zhao , Dongxiao Zhu

Motivation: Next generation methods of DNA sequencing produce relatively high rate of reading errors, which interfere with de novo genome assembly of newly sequenced organisms and particularly affect the quality of SNP detection important…

Genomics · Quantitative Biology 2019-07-31 Oleg Fokin , Anastasia Bakulina , Igor Seledtsov , Victor Solovyev

Representation learning is an important step in the machine learning pipeline. Given the current biological sequencing data volume, learning an explicit representation is prohibitive due to the dimensionality of the resulting feature…

Machine Learning · Computer Science 2023-04-04 Sarwan Ali , Usama Sardar , Murray Patterson , Imdad Ullah Khan

The nucleotide sequence representation of DNA can be inadequate for resolving protein-DNA binding sites and regulatory substrates, such as those involved in gene expression and horizontal gene transfer. Considering that sequence-like…

Genomics · Quantitative Biology 2020-07-30 Jan Zrimec

Many machine learning models use the manipulation of dimensions as a driving force to enable models to identify and learn important features in data. In the case of sequential data this manipulation usually happens on the token dimension…

Machine Learning · Computer Science 2023-10-24 Daniel Biermann , Fabrizio Palumbo , Morten Goodwin , Ole-Christoffer Granmo

The problem of differentiating the informational content of coding (exons) and non-coding (introns) regions of a DNA sequence is one of the central problems of genomics. The introns are estimated to be nearly 95% of the DNA and since they…

Computational Engineering, Finance, and Science · Computer Science 2010-10-21 Riyazuddin Mohammed

There are currently plenty of programs available for mapping short sequences (reads) to a genome. Most of them, however, including such popular and actively developed programs as Bowtie, BWA, TopHat and many others, are based on…

Genomics · Quantitative Biology 2019-08-06 Igor Seledtsov , Jaroslav Efremov , Vladimir Molodtsov , Victor Solovyev

We study a minimal model for genome evolution whose elementary processes are single site mutation, duplication and deletion of sequence regions and insertion of random segments. These processes are found to generate long-range correlations…

Genomics · Quantitative Biology 2007-05-23 Philipp W. Messer , Peter F. Arndt , Michael Lässig

Single-cell RNA sequencing (scRNA-seq) provides unprecedented insights into cellular heterogeneity, enabling detailed analysis of complex biological systems at single-cell resolution. However, the high dimensionality and technical noise…

Genomics · Quantitative Biology 2025-09-04 Hojjat Torabi Goudarzi , Maziyar Baran Pouyan

Deep learning has been widely used for protein engineering. However, it is limited by the lack of sufficient experimental data to train an accurate model for predicting the functional fitness of high-order mutants. Here, we develop SESNet,…

Quantitative Methods · Quantitative Biology 2023-04-10 Mingchen Li , Liqi Kang , Yi Xiong , Yu Guang Wang , Guisheng Fan , Pan Tan , Liang Hong

Reference-guided DNA sequencing and alignment is an important process in computational molecular biology. The amount of DNA data grows very fast, and many new genomes are waiting to be sequenced while millions of private genomes need to be…

Large language models (LLMs) have shown strong ability in generating rich representations across domains such as natural language processing and generation, computer vision, and multimodal learning. However, their application in biomedical…

Genomics · Quantitative Biology 2025-09-30 Luxuan Zhang , Douglas Jiang , Qinglong Wang , Haoqi Sun , Feng Tian

Modern systems for automatic speech recognition, including the RNN-Transducer and Attention-based Encoder-Decoder (AED), are designed so that the encoder is not required to alter the time-position of information from the audio sequence into…

Sound · Computer Science 2025-02-11 Adam Stooke , Rohit Prabhavalkar , Khe Chai Sim , Pedro Moreno Mengibar

Currently, many studies view DNA sequences as a special type of language and utilize Transformers to model them. These studies use fixed-length k-mer segmentation and BPE subword tokenization but lack a systematic evaluation to determine…

Computation and Language · Computer Science 2025-07-22 Chenlei Gong , Yuanhe Tian , Lei Mao , Yan Song

Deep learning, a rebranding of deep neural network research works, has achieved a remarkable success in recent years. With multiple hidden layers, deep learning models aim at computing the hierarchical feature representations of the…

Neural and Evolutionary Computing · Computer Science 2018-06-06 Jiawei Zhang , Limeng Cui , Fisher B. Gouza

Network intrusion detection systems play a crucial role in the security strategy employed by organisations to detect and prevent cyberattacks. Such systems usually combine pattern detection signatures with anomaly detection techniques…

Cryptography and Security · Computer Science 2026-03-13 Massimiliano Altieri , Ronan Hamon , Roberto Corizzo , Michelangelo Ceci , Ignacio Sanchez

Recently several deep learning models have been used for DNA sequence based classification tasks. Often such tasks require long and variable length DNA sequences in the input. In this work, we use a sequence-to-sequence autoencoder model to…

Genomics · Quantitative Biology 2019-06-10 Vishal Agarwal , N Jayanth Kumar Reddy , Ashish Anand

DNA emerges as a promising medium for the exponential growth of digital data due to its density and durability. This study extends recent research by addressing the \emph{coverage depth problem} in practical scenarios, exploring optimal…

Information Theory · Computer Science 2024-02-01 Hadas Abraham , Rayn Gabrys , Eitan Yaakobi

In recent years supervised representation learning has provided state of the art or close to the state of the art results in semantic analysis tasks including ranking and information retrieval. The core idea is to learn how to embed items…

Computation and Language · Computer Science 2017-08-11 Dasha Bogdanova , Majid Yazdani