[HTML][HTML] Application of next generation sequencing in laboratory medicine

Y Zhong, F Xu, J Wu, J Schubert… - Annals of laboratory …, 2021 - synapse.koreamed.org
The rapid development of next-generation sequencing (NGS) technology, including
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …

The bioinformatics tools for the genome assembly and analysis based on third-generation sequencing

YK Wee, SB Bhyan, Y Liu, J Lu, X Li… - Briefings in functional …, 2019 - academic.oup.com
The application of third-generation sequencing (TGS) technology in genetics and genomics
have provided opportunities to categorize and explore the individual genomic landscapes …

PBSIM2: a simulator for long-read sequencers with a novel generative model of quality scores

Y Ono, K Asai, M Hamada - Bioinformatics, 2021 - academic.oup.com
Motivation Recent advances in high-throughput long-read sequencers, such as PacBio and
Oxford Nanopore sequencers, produce longer reads with more errors than short-read …

DeepSimulator: a deep simulator for Nanopore sequencing

Y Li, R Han, C Bi, M Li, S Wang, X Gao - Bioinformatics, 2018 - academic.oup.com
Abstract Motivation Oxford Nanopore sequencing is a rapidly developed sequencing
technology in recent years. To keep pace with the explosion of the downstream data …

DeepSimulator1. 5: a more powerful, quicker and lighter simulator for Nanopore sequencing

Y Li, S Wang, C Bi, Z Qiu, M Li, X Gao - Bioinformatics, 2020 - academic.oup.com
Motivation Nanopore sequencing is one of the leading third-generation sequencing
technologies. A number of computational tools have been developed to facilitate the …

SQANTI-SIM: a simulator of controlled transcript novelty for lrRNA-seq benchmark

J Mestre-Tomás, T Liu, F Pardo-Palacios, A Conesa - Genome Biology, 2023 - Springer
Long-read RNA sequencing has emerged as a powerful tool for transcript discovery, even in
well-annotated organisms. However, assessing the accuracy of different methods in …

Information rates of the noisy nanopore channel

B McBain, E Viterbo… - IEEE Transactions on …, 2024 - ieeexplore.ieee.org
The noisy nanopore channel is introduced as a model of the nanopore sequencer in DNA
storage that includes inter-symbol interference, sample duplications, and measurement …

Channel model and decoder with memory for DNA data storage with nanopore sequencing

B Hamoum, E Dupraz - IEEE Access, 2023 - ieeexplore.ieee.org
This paper investigates channel coding for DNA data storage, a recent and emerging
paradigm in which both substitution errors and synchronization errors (insertions, deletions) …

FFPE-based NGS approaches into clinical practice: the limits of glory from a pathologist viewpoint

F Cappello, V Angerilli, G Munari, C Ceccon… - Journal of Personalized …, 2022 - mdpi.com
The introduction of next-generation sequencing (NGS) in the molecular diagnostic
armamentarium is deeply changing pathology practice and laboratory frameworks. NGS …

[HTML][HTML] Recommendations for the use of in silico approaches for next-generation sequencing bioinformatic pipeline validation: a joint report of the Association for …

EJ Duncavage, JF Coleman, ME de Baca… - The Journal of Molecular …, 2023 - Elsevier
In silico approaches for next-generation sequencing (NGS) data modeling have utility in the
clinical laboratory as a tool for clinical assay validation. In silico NGS data can take a variety …