Artificial intelligence in molecular medicine

B Gomes, EA Ashley - New England Journal of Medicine, 2023 - Mass Medical Soc
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[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 …

Unveiling microbial diversity: harnessing long-read sequencing technology

DP Agustinho, Y Fu, VK Menon, GA Metcalf… - Nature …, 2024 - nature.com
Long-read sequencing has recently transformed metagenomics, enhancing strain-level
pathogen characterization, enabling accurate and complete metagenome-assembled …

Nanopore DNA sequencing technologies and their applications towards single-molecule proteomics

A Dorey, S Howorka - Nature chemistry, 2024 - nature.com
Sequencing of nucleic acids with nanopores has emerged as a powerful tool offering rapid
readout, high accuracy, low cost and portability. This label-free method for sequencing at the …

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 …

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 …

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 …

A signal processing and deep learning framework for methylation detection using Oxford Nanopore sequencing

MU Ahsan, A Gouru, J Chan, W Zhou… - Nature communications, 2024 - nature.com
Oxford Nanopore sequencing can detect DNA methylations from ionic current signal of
single molecules, offering a unique advantage over conventional methods. Additionally …