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De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until…

Genomics · Quantitative Biology 2023-08-16 Heng Li , Richard Durbin

Reconstructing components of a genomic mixture from data obtained by means of DNA sequencing is a challenging problem encountered in a variety of applications including single individual haplotyping and studies of viral communities.…

Genomics · Quantitative Biology 2019-11-14 Ziqi Ke , Haris Vikalo

De novo genome assembly focuses on finding connections between a vast amount of short sequences in order to reconstruct the original genome. The central problem of genome assembly could be described as finding a Hamiltonian path through a…

Machine Learning · Computer Science 2020-11-11 Lovro Vrček , Petar Veličković , Mile Šikić

A critical step of genome sequence analysis is the mapping of sequenced DNA fragments (i.e., reads) collected from an individual to a known linear reference genome sequence (i.e., sequence-to-sequence mapping). Recent works replace the…

Each human genome is a 3 billion base pair set of encoding instructions. Decoding the genome using deep learning fundamentally differs from most tasks, as we do not know the full structure of the data and therefore cannot design…

Machine Learning · Computer Science 2016-05-24 Laura Deming , Sasha Targ , Nate Sauder , Diogo Almeida , Chun Jimmie Ye

High read depth can be used to assemble short sequence repeats. The existing genome assemblers fail in repetitive regions of longer than average read. I propose a new algorithm for a DNA assembly which uses the relative frequency of reads…

Genomics · Quantitative Biology 2015-01-08 Robert M. Nowak

Repetitive DNA (repeats) poses significant challenges for accurate and efficient genome assembly and sequence alignment. This is particularly true for metagenomic data, where genome dynamics such as horizontal gene transfer, gene…

Machine Learning · Computer Science 2024-02-15 Ali Azizpour , Advait Balaji , Todd J. Treangen , Santiago Segarra

The problem of assembling DNA fragments starting from imperfect strings given by a sequencer, classified as NP hard when trying to get perfect answers, has a huge importance in several fields, because of its relation with the possibility of…

Data Structures and Algorithms · Computer Science 2017-05-26 Juan Manuel Ciro Restrepo , Andrés Felipe Zapata Palacio , Mauricio Toro

Predicting DNA-protein binding is an important and classic problem in bioinformatics. Convolutional neural networks have outperformed conventional methods in modeling the sequence specificity of DNA-protein binding. However, none of the…

Genomics · Quantitative Biology 2021-06-04 Yuhang Guo , Xiao Luo , Liang Chen , Minghua Deng

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

Autonomous assembly of objects is an essential task in robotics and 3D computer vision. It has been studied extensively in robotics as a problem of motion planning, actuator control and obstacle avoidance. However, the task of developing a…

Computer Vision and Pattern Recognition · Computer Science 2021-08-02 Abhinav Narayan Harish , Rajendra Nagar , Shanmuganathan Raman

Genome assembly is a fundamental problem in Bioinformatics, requiring to reconstruct a source genome from an assembly graph built from a set of reads (short strings sequenced from the genome). A notion of genome assembly solution is that of…

Discrete Mathematics · Computer Science 2021-11-03 Massimo Cairo , Shahbaz Khan , Romeo Rizzi , Sebastian Schmidt , Alexandru I. Tomescu , Elia C. Zirondelli

De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequence assembly, which can resolve short-read data in complex…

Quantum Physics · Physics 2026-02-11 Josh Cudby , James Bonfield , Chenxi Zhou , Richard Durbin , Sergii Strelchuk

Despite recent advances in the length and the accuracy of long-read data, building haplotype-resolved genome assemblies from telomere to telomere still requires considerable computational resources. In this study, we present an efficient de…

Genomics · Quantitative Biology 2023-06-07 Haoyu Cheng , Mobin Asri , Julian Lucas , Sergey Koren , Heng Li

The first step in any genome assembly algorithm entails the conversion from the domain of strings and overlaps to the language of graphs and paths, typically using one of the two conventional methods: de Bruijn graphs or overlap graphs.…

Genomics · Quantitative Biology 2026-04-27 Anton Bankevich

Earlier formulations of the DNA assembly problem were all in the context of perfect assembly; i.e., given a set of reads from a long genome sequence, is it possible to perfectly reconstruct the original sequence? In practice, however, it is…

Information Theory · Computer Science 2016-05-09 Ilan Shomorony , Govinda M. Kamath , Fei Xia , Thomas A. Courtade , David N. Tse

Understanding genetic variation, e.g., through mutations, in organisms is crucial to unravel their effects on the environment and human health. A fundamental characterization can be obtained by solving the haplotype assembly problem, which…

Genomics · Quantitative Biology 2022-10-25 Hansheng Xue , Vaibhav Rajan , Yu Lin

Detecting and segmenting human skin regions in digital images is an intensively explored topic of computer vision with a variety of approaches proposed over the years that have been found useful in numerous practical applications. The first…

Computer Vision and Pattern Recognition · Computer Science 2025-03-19 Patryk Kuban , Michal Kawulok

The deep Convolutional Neural Network (CNN) is the state-of-the-art solution for large-scale visual recognition. Following basic principles such as increasing the depth and constructing highway connections, researchers have manually…

Computer Vision and Pattern Recognition · Computer Science 2017-03-07 Lingxi Xie , Alan Yuille

Prior highly-tuned human parsing models tend to fit towards each dataset in a specific domain or with discrepant label granularity, and can hardly be adapted to other human parsing tasks without extensive re-training. In this paper, we aim…

Computer Vision and Pattern Recognition · Computer Science 2019-04-10 Ke Gong , Yiming Gao , Xiaodan Liang , Xiaohui Shen , Meng Wang , Liang Lin
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