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Long-Read Sequencing Emerging in Medical Genetics [PDF]

Frontiers in Genetics, 2019
The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural ...
Tuomo Mantere, Tuomo Mantere, Simone Kersten, Simone Kersten, Simone Kersten, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen   +7 more
doaj   +5 more sources

Long-read sequencing for brain tumors [PDF]

Frontiers in Oncology
Brain tumors and genomics have a long-standing history given that glioblastoma was the first cancer studied by the cancer genome atlas. The numerous and continuous advances through the decades in sequencing technologies have aided in the advanced ...
William J. Shelton, Sara Zandpazandi, J Stephen Nix, Murat Gokden, Michael Bauer, Katie Rose Ryan, Christopher P. Wardell, Olena Morozova Vaske, Analiz Rodriguez   +8 more
doaj   +4 more sources

Long-read sequencing in fungal identification [PDF]

Microbiology Australia, 2022
Long-read sequencing is currently supported by sequencing platforms from Pacific Biosciences and Oxford Nanopore Technologies, both of which generate ultra-long reads.
Wieland Meyer, Laszlo Irinyi, Minh Thuy Vi Hoang   +2 more
doaj   +2 more sources

Long-Read Nanopore-Based Sequencing of Anelloviruses

Viruses
Routinely used metagenomic next-generation sequencing (mNGS) techniques often fail to detect low-level viremia (
Raghavendran Anantharam, Dylan Duchen, Andrea L. Cox, Winston Timp, David L. Thomas, Steven J. Clipman, Abraham J. Kandathil   +6 more
doaj   +3 more sources

Applications of long-read sequencing to Mendelian genetics

Genome Medicine, 2023
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder ...
Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler   +2 more
doaj   +3 more sources

QitanTech Nanopore Long-Read Sequencing Enables Rapid Resolution of Complete Genomes of Multi-Drug Resistant Pathogens

Frontiers in Microbiology, 2022
Advancement of novel sequencing technologies facilitates modern life science and medicine unprecedentedly. Exploring complete genome sequences of bacteria by long-read sequencing technology is significant for microbial genomics research.
Kai Peng, Kai Peng, Yi Yin, Yi Yin, Yan Li, Yan Li, Shangshang Qin, Yuan Liu, Yuan Liu, Xiaorong Yang, Zhiqiang Wang, Zhiqiang Wang, Ruichao Li, Ruichao Li   +13 more
doaj   +3 more sources

Genome sequencing using long-read sequencing

Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales, 2023
Juan Guillermo McEwen, Oscar Mauricio Gómez   +1 more
doaj   +2 more sources

Application of long-read sequencing to the detection of structural variants in human cancer genomes

Computational and Structural Biotechnology Journal, 2021
In recent years, the so-called long-read sequencing technology has had a substantial impact on various aspects of genome sciences. Here, we introduce recent studies of cancerous structural variants (SVs) using long-read sequencing technologies, namely ...
Yoshitaka Sakamoto, Suzuko Zaha, Yutaka Suzuki, Masahide Seki, Ayako Suzuki   +4 more
doaj   +3 more sources

Why Are Long-Read Sequencing Methods Revolutionizing Microbiome Analysis? [PDF]

Microorganisms
Most of the knowledge available on the composition and functionality of microbial communities in different ecosystems comes from short-read sequencing methods.
Adriana González, Asier Fullaondo, Adrian Odriozola   +2 more
doaj   +2 more sources

The application of long-read sequencing in clinical settings

Human Genomics, 2023
Long-read DNA sequencing technologies have been rapidly evolving in recent years, and their ability to assess large and complex regions of the genome makes them ideal for clinical applications in molecular diagnosis and therapy selection, thereby ...
Josephine B. Oehler, Helen Wright, Zornitza Stark, Andrew J. Mallett, Ulf Schmitz   +4 more
doaj   +6 more sources