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Recent advances in high-throughput sequencing technologies have enabled the extraction of multiple features that depict patient samples at diverse and complementary molecular levels. The generation of such data has led to new challenges in…

Genomics · Quantitative Biology 2022-09-14 Hakim Benkirane , Yoann Pradat , Stefan Michiels , Paul-Henry Cournède

Learning-based lossless compressors play a crucial role in large-scale genomic database backup, storage, transmission, and management. However, their 1) inadequate compression ratio, 2) low compression \& decompression throughput, and 3)…

Machine Learning · Computer Science 2025-07-18 Hui Sun , Yanfeng Ding , Liping Yi , Huidong Ma , Gang Wang , Xiaoguang Liu , Cheng Zhong , Wentong Cai

We pretrain METAGENE-1, a 7-billion-parameter autoregressive transformer model, which we refer to as a metagenomic foundation model, on a novel corpus of diverse metagenomic DNA and RNA sequences comprising over 1.5 trillion base pairs.…

Genomics · Quantitative Biology 2025-01-07 Ollie Liu , Sami Jaghouar , Johannes Hagemann , Shangshang Wang , Jason Wiemels , Jeff Kaufman , Willie Neiswanger

Sequencing a genome to determine an individual's DNA produces an enormous number of short nucleotide subsequences known as reads, which must be reassembled to reconstruct the full genome. We present a method for analyzing this type of data…

Machine Learning · Computer Science 2025-05-23 Filip Thor , Carl Nettelblad

The fall of prices of the high-throughput genome sequencing changes the landscape of modern genomics. A number of large scale projects aimed at sequencing many human genomes are in progress. Genome sequencing also becomes an important aid…

Data Structures and Algorithms · Computer Science 2017-03-03 Sebastian Deorowicz , Agnieszka Danek , Marcin Niemiec

The explosion in known microbial diversity in the last two decades has made it abundantly clear that microbes in the environment do not exist in isolation; they are members of communities. Accordingly, omics approaches such as metagenomics…

Quantitative Methods · Quantitative Biology 2024-07-15 James C. Kosmopoulos , Karthik Anantharaman

Background: In the metagenome assembly of a microbiome community, we may think abundant species would be easier to assemble due to their deeper coverage. However, this conjucture is rarely tested. We often do not know how many abundant…

Genomics · Quantitative Biology 2022-11-23 Xiaowen Feng , Heng Li

Storing and archiving data produced by next-generation sequencing (NGS) is a huge burden for research institutions. Reference-based compression algorithms are effective in dealing with these data. Our work focuses on compressing FASTQ…

Information Theory · Computer Science 2024-04-04 Yuanjian Liu , Huihao Luo , Zhijun Han , Yao Hu , Yehui Yang , Kyle Chard , Sheng Di , Ian Foster , Jiesheng Wu

Metagenome assembly is the process of transforming a set of short, overlapping, and potentially erroneous DNA segments from environmental samples into the accurate representation of the underlying microbiomes's genomes. State-of-the-art…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-09-20 Evangelos Georganas , Rob Egan , Steven Hofmeyr , Eugene Goltsman , Bill Arndt , Andrew Tritt , Aydin Buluc , Leonid Oliker , Katherine Yelick

Data compression plays an important role to deal with high volumes of DNA sequences in the field of Bioinformatics. Again data compression techniques directly affect the alignment of DNA sequences. So the time needed to decompress a…

Computational Engineering, Finance, and Science · Computer Science 2012-11-13 Subhankar Roy , Sunirmal Khatua , Sudipta Roy , Samir K. Bandyopadhyay

For single-cell or metagenomic sequencing projects, it is necessary to sequence with a very high mean coverage in order to make sure that all parts of the sample DNA get covered by the reads produced. This leads to huge datasets with lots…

Many previous works in spike sorting study spike classification and compression independently. In this paper, a novel algorithm is proposed called MetaSort to address these two problems. To deal with compression, a novel adaptive level…

Signal Processing · Electrical Eng. & Systems 2026-03-10 Luca M. Meyer , Majid Zamani

Life science is entering a new era of petabyte-level sequencing data. Converting such big data to biological insights represents a huge challenge for computational analysis. To this end, we developed DeepMetabolism, a biology-guided deep…

Genomics · Quantitative Biology 2017-05-10 Weihua Guo , You Xu , Xueyang Feng

Next-generation sequencing technologies have enhanced the scope of Internet-of-Things (IoT) to include genomics for personalized medicine through the increased availability of an abundance of genome data collected from heterogeneous sources…

Reproducibility of research is essential for science. However, in the way modern computational biology research is done, it is easy to lose track of small, but extremely critical, details. Key details, such as the specific version of a…

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

DNA sequencing technology has advanced to a point where storage is becoming the central bottleneck in the acquisition and mining of more data. Large amounts of data are vital for genomics research, and generic compression tools, while…

Information Theory · Computer Science 2016-11-15 Bobbie Chern , Idoia Ochoa , Alexandros Manolakos , Albert No , Kartik Venkat , Tsachy Weissman

Metagenomics has lowered the barrier to microbial discovery--enabling the identification of novel microbes without isolation--but cultures remain imperative for the deep study of microbes. Cultivation and isolation of non-model microbes…

Molecular Networks · Quantitative Biology 2026-02-26 Olivia Bulka , Chabname Ghassemi Nedjad , Loïc Paulevé , Sylvain Prigent , Clémence Frioux

Adequate read filtering is critical when processing high-throughput data in marker-gene-based studies. Sequencing errors can cause the mis-clustering of otherwise similar reads, artificially increasing the number of retrieved Operational…

Quantitative Methods · Quantitative Biology 2015-06-02 Fernando Puente-Sánchez , Jacobo Aguirre , Víctor Parro

Metagenomic taxonomic annotation aims to identify the microbial origins of DNA fragments in environmental samples. Traditional methods that rely on sequence similarity are often constrained by the high microbial diversity and the…

Machine Learning · Computer Science 2026-05-29 Rongye Ye , Lun Li , Zheng Luo , Yiran Zhan , Shuhui Song