Results 1 to 10 of about 383,643 (254)

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‐fragment targeted capture for long‐read sequencing of plastomes [PDF]

Applications in Plant Sciences, 2019
Premise Third‐generation sequencing methods generate significantly longer reads than those produced using alternative sequencing methods. This provides increased possibilities for the study of biodiversity, phylogeography, and population genetics.
Kevin Bethune, Cédric Mariac, Marie Couderc, Nora Scarcelli, Sylvain Santoni, Morgane Ardisson, Jean‐François Martin, Rommel Montúfar, Valentin Klein, François Sabot, Yves Vigouroux, Thomas L. P. Couvreur   +11 more
doaj   +8 more sources

Comparing genomes recovered from time-series metagenomes using long- and short-read sequencing technologies

Microbiome, 2023
Background Over the past years, sequencing technologies have expanded our ability to examine novel microbial metabolisms and diversity previously obscured by isolation approaches.
Luis H. Orellana, Karen Krüger, Chandni Sidhu, Rudolf Amann   +3 more
doaj   +1 more source

Ultra-accurate microbial amplicon sequencing with synthetic long reads

Microbiome, 2021
Background Out of the many pathogenic bacterial species that are known, only a fraction are readily identifiable directly from a complex microbial community using standard next generation DNA sequencing.
Benjamin J. Callahan, Dmitry Grinevich, Siddhartha Thakur, Michael A. Balamotis, Tuval Ben Yehezkel   +4 more
doaj   +1 more source

Migrating to Long-Read Sequencing for Clinical Routine TKI Resistance Mutation Screening

Cancer Informatics, 2022
Objective: The aim of this project was to implement long-read sequencing for BCR-ABL1 TKI resistance mutation screening in a clinical setting for patients undergoing treatment for chronic myeloid leukemia.
Wesley Schaal, Adam Ameur, Ulla Olsson-Strömberg, Monica Hermanson, Lucia Cavelier, Ola Spjuth   +5 more
doaj   +1 more source

Balancing read length and sequencing depth: Optimizing Nanopore long‐read sequencing for monocots with an emphasis on the Liliales

Applications in Plant Sciences, 2023
Premise We present approaches used to generate long‐read Nanopore sequencing reads for the Liliales and demonstrate how modifications to standard protocols directly impact read length and total output.
Gisel Y. De La Cerda, Jacob B. Landis, Evan Eifler, Adriana I. Hernandez, Fay‐Wei Li, Jing Zhang, Carrie M. Tribble, Nisa Karimi, Patricia Chan, Thomas Givnish, Susan R. Strickler, Chelsea D. Specht   +11 more
doaj   +1 more source

Long-Read Sequencing Annotation of the Transcriptome in DNA-PK Inactivated Cells

Frontiers in Oncology, 2022
The DNA-dependent protein kinase catalytic subunit (DNA-PKcs) with a Ku70/Ku80 heterodimer constitutes the intact DNA-PK kinase, which is an upstream component of the DNA repair machinery that signals the DNA damage, orchestrates the DNA repair, and ...
Liwei Song, Liwei Song, Mengjun Yu, Renjing Jin, Meng Gu, Ziyu Wang, Dailun Hou, Shaofa Xu, Jinghui Wang, Jinghui Wang, Teng Ma   +10 more
doaj   +1 more source

The genome sequence of the Twenty-plume Moth, Alucita hexadactyla Linnaeus, 1758 [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research
We present a genome assembly from a specimen of Alucita hexadactyla (Twenty-plume Moth; Arthropoda; Insecta; Lepidoptera; Alucitidae). The genome sequence has a total length of 878.53 megabases.
David C. Lees, Caroline Eve Mitchell, Liam M. Crowley, Peter W. H. Holland   +3 more
doaj   +1 more source

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of Clinical and Translational Neurology, 2022
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites.
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang   +23 more
doaj   +1 more source