[HTML][HTML] Application of next generation sequencing in laboratory medicine
The rapid development of next-generation sequencing (NGS) technology, including
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …
The bioinformatics tools for the genome assembly and analysis based on third-generation sequencing
The application of third-generation sequencing (TGS) technology in genetics and genomics
have provided opportunities to categorize and explore the individual genomic landscapes …
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
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 …
Oxford Nanopore sequencers, produce longer reads with more errors than short-read …
DeepSimulator: a deep simulator for Nanopore sequencing
Abstract Motivation Oxford Nanopore sequencing is a rapidly developed sequencing
technology in recent years. To keep pace with the explosion of the downstream data …
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
Motivation Nanopore sequencing is one of the leading third-generation sequencing
technologies. A number of computational tools have been developed to facilitate the …
technologies. A number of computational tools have been developed to facilitate the …
SQANTI-SIM: a simulator of controlled transcript novelty for lrRNA-seq benchmark
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 …
well-annotated organisms. However, assessing the accuracy of different methods in …
Information rates of the noisy nanopore channel
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 …
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) …
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 …
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 …
clinical laboratory as a tool for clinical assay validation. In silico NGS data can take a variety …