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Nanopore sequencing is an emerging new technology for sequencing DNA, which can read long fragments of DNA (~50,000 bases) in contrast to most current short-read sequencing technologies which can only read hundreds of bases. While nanopore…

Information Theory · Computer Science 2018-02-20 Wei Mao , Suhas Diggavi , Sreeram Kannan

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

Sequence generation applications require satisfying semantic constraints, such as ensuring that programs are correct, using certain keywords, or avoiding undesirable content. Language models, whether fine-tuned or prompted with few-shot…

Computation and Language · Computer Science 2022-11-02 Sean Welleck , Ximing Lu , Peter West , Faeze Brahman , Tianxiao Shen , Daniel Khashabi , Yejin Choi

De novo genome assembly is the process of stitching short DNA sequences to generate longer DNA sequences, without using any reference sequence for alignment. It enables high-throughput genome sequencing and thus accelerates the discovery of…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-01-16 Da Yan , Hongzhi Chen , James Cheng , Zhenkun Cai , Bin Shao

Genome assembly from the high-throughput sequencing (HTS) reads is a fundamental yet challenging computational problem. An intrinsic challenge is the uncertainty caused by the widespread repetitive elements. Here we get around the…

Genomics · Quantitative Biology 2016-09-13 Anqi Wang , Zheng Li , Zhanyu Wang , Lei M. Li

Background: The short reads output by first- and second-generation DNA sequencing instruments cannot completely reconstruct microbial chromosomes. Therefore, most genomes have been left unfinished due to the significant resources required…

In biomedical fields, one named entity may consist of a series of non-adjacent tokens and overlap with other entities. Previous methods recognize discontinuous entities by connecting entity fragments or internal tokens, which face…

Computation and Language · Computer Science 2025-10-14 Yawen Yang , Fukun Ma , Shiao Meng , Aiwei Liu , Lijie Wen

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

Genomics is changing our understanding of humans, evolution, diseases, and medicines to name but a few. As sequencing technology is developed collecting DNA sequences takes less time thereby generating more genetic data every day. Today the…

Quantitative Methods · Quantitative Biology 2020-07-29 Sahand Salamat , Tajana Rosing

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

There are already many DNA large language models, but most of them still follow traditional uses, such as extracting sequence features for classification tasks. More innovative applications of large language models, such as prompt…

Genomics · Quantitative Biology 2024-10-29 Wang Liang

In recent years generative models of visual data have made a great progress, and now they are able to produce images of high quality and diversity. In this work we study representations learnt by a GAN generator. First, we show that these…

Computer Vision and Pattern Recognition · Computer Science 2020-06-19 Danil Galeev , Konstantin Sofiiuk , Danila Rukhovich , Mikhail Romanov , Olga Barinova , Anton Konushin

The coverage depth problem in DNA data storage is about minimizing the expected number of reads until all data is recovered. When they exist, MDS codes offer the best performance in this context. This paper focuses on the scenario where the…

Information Theory · Computer Science 2025-07-29 Matteo Bertuzzo , Alberto Ravagnani , Eitan Yaakobi

This paper presents a novel method to segment/decode DNA sequences based on n-grams statistical language model. Firstly, we find the length of most DNA 'words' is 12 to 15 bps by analyzing the genomes of 12 model species. Then we design an…

Genomics · Quantitative Biology 2015-03-13 Wang Liang

Modern QA systems entail retrieval-augmented generation (RAG) for accurate and trustworthy responses. However, the inherent gap between user queries and relevant documents hinders precise matching. We introduce QAEncoder, a training-free…

Computation and Language · Computer Science 2025-07-03 Zhengren Wang , Qinhan Yu , Shida Wei , Zhiyu Li , Feiyu Xiong , Xiaoxing Wang , Simin Niu , Hao Liang , Wentao Zhang

The remarkable success of foundation models has sparked growing interest in their application to single-cell biology. Models like Geneformer and scGPT promise to serve as versatile tools in this specialized field. However, representing a…

Quantitative Methods · Quantitative Biology 2024-11-12 Jiabei Cheng , Jiachen Li , Kaiyuan Yang , Hongbin Shen , Ye Yuan

A fundamental challenge in neuroscience is to understand what structure in the world is represented in spatially distributed patterns of neural activity from multiple single-trial measurements. This is often accomplished by learning a…

Neural and Evolutionary Computing · Computer Science 2020-07-01 Jesse A. Livezey , Kristofer E. Bouchard , Edward F. Chang

The alignment of biological sequences such as DNA, RNA, and proteins, is one of the basic tools that allow to detect evolutionary patterns, as well as functional/structural characterizations between homologous sequences in different…

Quantitative Methods · Quantitative Biology 2023-05-01 Louise Budzynski , Andrea Pagnani

Massively parallel sequencing techniques have revolutionized biological and medical sciences by providing unprecedented insight into the genomes of humans, animals, and microbes. Modern sequencing platforms generate enormous amounts of…

We propose coding techniques that limit the length of homopolymers runs, ensure the GC-content constraint, and are capable of correcting a single edit error in strands of nucleotides in DNA-based data storage systems. In particular, for…

Information Theory · Computer Science 2020-01-10 Tuan Thanh Nguyen , Kui Cai , Kees A. Schouhamer Immink , Han Mao Kiah
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