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Genome sequencing is the basis for many modern biological and medicinal studies. With recent technological advances, metagenomics has become a problem of interest. This problem entails the analysis and reconstruction of multiple DNA…

Probability · Mathematics 2022-01-14 Marlee Herring

DNA sequencing is revolutionising the field of medicine. DNA sequencers, the machines which perform DNA sequencing, have evolved from the size of a fridge to that of a mobile phone over the last two decades. The cost of sequencing a human…

Genomics · Quantitative Biology 2021-01-14 Hasindu Gamaarachchi

The shotgun sequencing process involves fragmenting a long DNA sequence (input string) into numerous shorter, unordered, and overlapping segments (referred to as \emph{reads}). The reads are sequenced, and later aligned to reconstruct the…

Information Theory · Computer Science 2025-09-26 Mohammed Ihsan Ali , Hrishi Narayanan , Prasad Krishnan

DNA sequencing is the basic workhorse of modern day biology and medicine. Shotgun sequencing is the dominant technique used: many randomly located short fragments called reads are extracted from the DNA sequence, and these reads are…

Information Theory · Computer Science 2013-02-15 Abolfazl Motahari , Guy Bresler , David Tse

The prevalent technique for DNA sequencing consists of two main steps: shotgun sequencing, where many randomly located fragments, called reads, are extracted from the overall sequence, followed by an assembly algorithm that aims to…

Genomics · Quantitative Biology 2016-01-28 Shirshendu Ganguly , Elchanan Mossel , Miklos Z. Racz

Recent work identified the fundamental limits on the information requirements in terms of read length and coverage depth required for successful de novo genome reconstruction from shotgun sequencing data, based on the idealistic assumption…

Genomics · Quantitative Biology 2014-02-28 Ka-Kit Lam , Asif Khalak , David Tse

Image normalization is a building block in medical image analysis. Conventional approaches are customarily utilized on a per-dataset basis. This strategy, however, prevents the current normalization algorithms from fully exploiting the…

Machine Learning · Computer Science 2020-10-06 Pierre-Luc Delisle , Benoit Anctil-Robitaille , Christian Desrosiers , Herve Lombaert

Deep Neural Networks (DNNs) thrive in recent years in which Batch Normalization (BN) plays an indispensable role. However, it has been observed that BN is costly due to the reduction operations. In this paper, we propose alleviating this…

Machine Learning · Computer Science 2018-11-05 Zhaodong Chen , Lei Deng , Guoqi Li , Jiawei Sun , Xing Hu , Xin Ma , Yuan Xie

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

Deep sequencing has become one of the most popular tools for transcriptome profiling in biomedical studies. While an abundance of computational methods exists for "normalizing" sequencing data to remove unwanted between-sample variations…

Genomics · Quantitative Biology 2022-01-14 Yannick Düren , Johannes Lederer , Li-Xuan Qin

DNA sequencing to identify genetic variants is becoming increasingly valuable in clinical settings. Assessment of variants in such sequencing data is commonly implemented through Bayesian heuristic algorithms. Machine learning has shown…

Quantile normalisation is a popular normalisation method for data subject to unwanted variations such as images, speech, or genomic data. It applies a monotonic transformation to the feature values of each sample to ensure that after…

Machine Learning · Statistics 2017-06-02 Marine Le Morvan , Jean-Philippe Vert

In shotgun sequencing, the input string (typically, a long DNA sequence composed of nucleotide bases) is sequenced as multiple overlapping fragments of much shorter lengths (called \textit{reads}). Modelling the shotgun sequencing pipeline…

Information Theory · Computer Science 2024-05-14 Hrishi Narayanan , Prasad Krishnan , Nita Parekh

We present a framework for the design of optimal assembly algorithms for shotgun sequencing under the criterion of complete reconstruction. We derive a lower bound on the read length and the coverage depth required for reconstruction in…

Genomics · Quantitative Biology 2013-02-20 Guy Bresler , Ma'ayan Bresler , David Tse

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…

DNA storage is now being considered as a new archival storage method for its durability and high information density, but still facing some challenges like high costs and low throughput. By reducing sequencing sample size for decoding…

Information Theory · Computer Science 2025-04-22 Ruiying Cao , Xin Chen

We study permutations over the set of $\ell$-grams, that are feasible in the sense that there is a sequence whose $\ell$-gram frequency has the same ranking as the permutation. Codes, which are sets of feasible permutations, protect…

Information Theory · Computer Science 2021-01-18 Niv Beeri , Moshe Schwartz

Genome sequencing is essential to decode genetic information, identify organisms, understand diseases and advance personalized medicine. A critical step in any genome sequencing technique is genome assembly. However, de novo genome…

The interpretation of count data originating from the current generation of DNA sequencing platforms requires special attention. In particular, the per-sample library sizes often vary by orders of magnitude from the same sequencing run, and…

Quantitative Methods · Quantitative Biology 2015-06-17 Paul J. McMurdie , Susan Holmes

We live in a period where bio-informatics is rapidly expanding, a significant quantity of genomic data has been produced as a result of the advancement of high-throughput genome sequencing technology, raising concerns about the costs…

Quantitative Methods · Quantitative Biology 2023-03-10 Mehedi Hasan Sarkar , Adnan Ferdous Ashrafi
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