Results 81 to 90 of about 25,431 (290)

Translational Gap in Biomarker Discovery: Tumor Surface Markers Rarely Mirror Circulating Levels

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background Tumor‐associated cell surface proteins are frequently proposed as circulating biomarkers for colorectal cancer (CRC) based on their high tumor expression. However, many candidates identified through tissue‐based analyses fail to translate into clinically useful biomarkers.
Junko Mukohyama, Shohei F. Fujita, Xinyi Fu, Shigenori Suzuki, Hiroki Hamamoto, Dai Shida, Kimihiro Yamashita, Kohei Taniguchi, Sang‐Woong Lee, Akihide Yoshimi   +9 more
wiley   +1 more source

NanoR: A user-friendly R package to analyze and compare nanopore sequencing data.

PLoS ONE, 2019
MinION and GridION X5 from Oxford Nanopore Technologies are devices for real-time DNA and RNA sequencing. On the one hand, MinION is the only real-time, low cost and portable sequencing device and, thanks to its unique properties, is becoming more and ...
Davide Bolognini, Niccolò Bartalucci, Alessandra Mingrino, Alessandro Maria Vannucchi, Alberto Magi   +4 more
doaj   +1 more source

BulkVis: a graphical viewer for Oxford nanopore bulk FAST5 files [PDF]

, 2018
Motivation: The Oxford Nanopore Technologies (ONT) MinION is used for sequencing a wide variety of sample types with diverse methods of sample extraction.
Payne, Alexander, Nadine Holmes, Rakyan, Vardhman, Alexander Payne, Vardhman Rakyan, Matthew Loose, Holmes, Nadine, Loose, Matthew   +7 more
core   +1 more source

Forensic STR profiling using Oxford Nanopore Technologies’ MinION sequencer [PDF]

, 2018
Abstract Forensic STR profiling using massively parallel sequencing (MPS) has gained much attention as an alternative for the traditional capillary electrophoresis (CE) methods. Oxford Nanopore Technologies recently developed the ‘MinION’, a pocket-sized nanopore sequencer with promising features that could be useful in the field of ...
Cornelis, Senne, Willems, Sander, Van Neste, Christophe, Tytgat, Olivier, Weymaere, Jana, Vander Plaetsen, Ann-Sophie, Deforce, Dieter, Van Nieuwerburgh, Filip   +7 more
openaire   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

RODAN: a fully convolutional architecture for basecalling nanopore RNA sequencing data

BMC Bioinformatics, 2022
Background Despite recent progress in basecalling of Oxford nanopore DNA sequencing data, its wide adoption is still being hampered by its relatively low accuracy compared to short read technologies.
Don Neumann, Anireddy S. N. Reddy, Asa Ben-Hur   +2 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Comparison of illumina versus nanopore 16s rRNA gene sequencing of the human nasal microbiota [PDF]

, 2020
Illumina and nanopore sequencing technologies are powerful tools that can be used to determine the bacterial composition of complex microbial communities. In this study, we compared nasal microbiota results at genus level using both Illumina and nanopore
Maria A. J. de Ridder, de Ridder, Maria, Willem de Koning, Hiltemann, Saskia, de Koning, Willem, Hays, John; id_orcid, Hiltemann, Saskia D., Kraaij, R. (Robert), Ridder, M.A.J. (Maria) de, Chantal B. van Houten, Hays, J.P. (John), van Houten, Chantal B., Heikema, Astrid P., Stubbs, Andrew, Saskia D. Hiltemann, Jansen, R. (Rick), de Ridder, Maria A. J., Jansen, Rick, Heikema, Astrid, Stefan A. Boers, Kraaij, Robert, de Koning, Willem; id_orcid, Kraaij, Robert; id_orcid, Heikema, A.P. (Astrid), Horst-Kreft, D. (Deborah), Robert Kraaij, John P. Hays, Hays, John, Koning, W. (Willem) de, van Houten, C.B. (Chantal B.), van Houten, CB, Rick Jansen, Louis J. Bont, A Horst - Kreft, Deborah, Hiltemann, S. (Saskia), Deborah Horst-Kreft, de Ridder, Maria; id_orcid, Boers, Stefan A., Bont, L.J. (Louis), Astrid P. Heikema, de Ridder, Maria A.J., Hays, John P., Bont, LJ, Horst-Kreft, Deborah, Stubbs, A.P. (Andrew), Andrew P. Stubbs, Stubbs, Andrew P., Boers, Stefan, Boers, S.A. (Stefan), Bont, Louis J.   +49 more
core   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Rapid multi-locus sequence typing direct from uncorrected long reads using Krocus [PDF]

PeerJ, 2018
Genome sequencing is rapidly being adopted in reference labs and hospitals for bacterial outbreak investigation and diagnostics where time is critical.
Andrew J. Page, Jacqueline A. Keane
doaj   +2 more sources