[HTML][HTML] Nanopore sequencing technology, bioinformatics and applications

Y Wang, Y Zhao, A Bollas, Y Wang, KF Au - Nature biotechnology, 2021 - nature.com
Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

Artificial intelligence in molecular medicine

B Gomes, EA Ashley - New England Journal of Medicine, 2023 - Mass Medical Soc
Artificial Intelligence in Molecular Medicine | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

Long-read human genome sequencing and its applications

GA Logsdon, MR Vollger, EE Eichler - Nature Reviews Genetics, 2020 - nature.com
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

DNA methylation cancer biomarkers: translation to the clinic

WJ Locke, D Guanzon, C Ma, YJ Liew… - Frontiers in …, 2019 - frontiersin.org
Carcinogenesis is accompanied by widespread DNA methylation changes within the cell.
These changes are characterized by a globally hypomethylated genome with focal …

DNA methylation-calling tools for Oxford Nanopore sequencing: a survey and human epigenome-wide evaluation

Y Liu, W Rosikiewicz, Z Pan, N Jillette, P Wang… - Genome biology, 2021 - Springer
Background Nanopore long-read sequencing technology greatly expands the capacity of
long-range, single-molecule DNA-modification detection. A growing number of analytical …

[HTML][HTML] Nanopore sequencing and its application to the study of microbial communities

L Ciuffreda, H Rodríguez-Pérez, C Flores - Computational and structural …, 2021 - Elsevier
Since its introduction, nanopore sequencing has enhanced our ability to study complex
microbial samples through the possibility to sequence long reads in real time using …

Applications of long-read sequencing to Mendelian genetics

FK Mastrorosa, DE Miller, EE Eichler - Genome medicine, 2023 - Springer
Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

Detection of DNA base modifications by deep recurrent neural network on Oxford Nanopore sequencing data

Q Liu, L Fang, G Yu, D Wang, CL Xiao… - Nature communications, 2019 - nature.com
DNA base modifications, such as C5-methylcytosine (5mC) and N6-methyldeoxyadenosine
(6mA), are important types of epigenetic regulations. Short-read bisulfite sequencing and …

Modern epigenetics methods in biological research

Y Li - Methods, 2021 - Elsevier
The definition of epigenetics refers that molecular modifications on DNA that can regulate
gene activity are independent of DNA sequence and mitotically stable. Notably, epigenetics …