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The tremdendous advances in high-throughput sequencing technologies have made population-scale sequencing as performed in the 1000 Genomes project and the Genome of the Netherlands project possible. Next-generation sequencing has allowed…

Genomics · Quantitative Biology 2013-03-15 Tobias Marschall , Alexander Schönhuth

A major hindrance to studies of microbial diversity has been that the vast majority of microbes cannot be cultured in the laboratory and thus are not amenable to traditional methods of characterization. Environmental shotgun sequencing…

Genomics · Quantitative Biology 2007-08-24 Sourav Chatterji , Ichitaro Yamazaki , Zhaojun Bai , Jonathan Eisen

Comprehensive discovery of structural variation (SV) in human genomes from DNA sequencing requires the integration of multiple alignment signals including read-pair, split-read and read-depth. However, owing to inherent technical…

Genomics · Quantitative Biology 2014-01-23 Ryan M. Layer , Ira M. Hall , Aaron R. Quinlan

The massive amount of genomic data appearing for SARS-CoV-2 since the beginning of the COVID-19 pandemic has challenged traditional methods for studying its dynamics. As a result, new methods such as Pangolin, which can scale to the…

Quantitative Methods · Quantitative Biology 2022-11-16 Prakash Chourasia , Sarwan Ali , Simone Ciccolella , Gianluca Della Vedova , Murray Patterson

Next-generation sequencing techniques have facilitated a large scale analysis of human genetic variation. Despite the advances in sequencing speeds, the computational discovery of structural variants is not yet standard. It is likely that…

Motivation: Detection of structural variants (SV) from the alignment of sample DNA reads to the reference genome is an important problem in understanding human diseases. Long reads that can span repeat regions, along with an accurate…

Genomics · Quantitative Biology 2023-01-25 Dhaivat Joshi , Suhas Diggavi , Mark J. P. Chaisson , Sreeram Kannan

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

In the realm of music recommendation, sequential recommenders have shown promise in capturing the dynamic nature of music consumption. A key characteristic of this domain is repetitive listening, where users frequently replay familiar…

Motivation: Second generation sequencing technology makes it feasible for many researches to obtain enough sequence reads to attempt the de novo assembly of higher eukaryotes (including mammals). De novo assembly not only provides a tool…

Genomics · Quantitative Biology 2010-08-17 Thomas C Conway , Andrew J Bromage

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

Next-generation sequencing (NGS) is a pivotal technique in genome sequencing due to its high throughput, rapid results, cost-effectiveness, and enhanced accuracy. Its significance extends across various domains, playing a crucial role in…

Genomics · Quantitative Biology 2025-04-28 Fathima Nuzla Ismail , Shanika Amarasoma

Motivation: Single Molecule Real-Time (SMRT) sequencing technology and Oxford Nanopore technologies (ONT) produce reads over 10kbp in length, which have enabled high-quality genome assembly at an affordable cost. However, at present, long…

Genomics · Quantitative Biology 2017-08-07 Heng Li

Motivation: Eugene Myers in his string graph paper (Myers, 2005) suggested that in a string graph or equivalently a unitig graph, any path spells a valid assembly. As a string/unitig graph also encodes every valid assembly of reads, such a…

Genomics · Quantitative Biology 2012-05-11 Heng Li

(An updated version of this manuscript has been accepted to Scientific Reports in 2016, please refer to http://www.nature.com/articles/srep31900) The highly anticipated transition from next generation sequencing (NGS) to third generation…

Genomics · Quantitative Biology 2016-09-06 Chengxi Ye , Chris Hill , Shigang Wu , Jue Ruan , Zhanshan , Ma

Optical Pooled Screening (OPS) is a powerful tool combining high-content microscopy with genetic engineering to investigate gene function in disease. The characterization of high-content images remains an active area of research and is…

Computer Vision and Pattern Recognition · Computer Science 2024-06-11 Heming Yao , Phil Hanslovsky , Jan-Christian Huetter , Burkhard Hoeckendorf , David Richmond

Currently, third-generation sequencing techniques, which allow to obtain much longer DNA reads compared to the next-generation sequencing technologies, are becoming more and more popular. There are many possibilities to combine data from…

Genomics · Quantitative Biology 2019-05-23 Wiktor Kuśmirek , Wiktor Franus , Robert Nowak

Motivation: Drug discovery demands rapid quantification of compound-protein interaction (CPI). However, there is a lack of methods that can predict compound-protein affinity from sequences alone with high applicability, accuracy, and…

Biomolecules · Quantitative Biology 2020-12-17 Mostafa Karimi , Di Wu , Zhangyang Wang , Yang Shen

Motivation: Transcriptome sequencing has long been the favored method for quickly and inexpensively obtaining the sequences for a large number of genes from an organism with no reference genome. With the rapidly increasing throughputs and…

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

Adaptive binning is a crucial step in the analysis of large astronomical datasets, such as those from integral-field spectroscopy, to ensure a sufficient signal-to-noise ratio (S/N) for reliable model fitting. However, the widely used…

Instrumentation and Methods for Astrophysics · Physics 2025-11-12 Michele Cappellari
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