Results 71 to 80 of about 23,440 (247)

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin, Yao Xiao, Shuangzi Luo, Yifan Li, Wenfei Zhang, Xiaoyu Zhang, Xinyi Wang, Di Wu, Jieru Hong, Yongkun Luan, Xun Huang, Yixiu Wang, Ningbo Wu, Xiaoxiao Hu, Fei Zhao, Wei Li, Xiao Luo, Bi Shi   +17 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

Detection of active transposable elements in Arabidopsis thaliana using Oxford Nanopore Sequencing technology [PDF]

BMC Genomics, 2017
Transposables elements (TEs) contribute to both structural and functional dynamics of most eukaryotic genomes. Because of their propensity to densely populate plant and animal genomes, the precise estimation of the impact of transposition on genomic diversity has been considered as one of the main challenges of today's genomics.
Debladis, Emilie, Llauro, Christel, Carpentier, Marie-Christine, Mirouze, Marie, Panaud, Olivier   +4 more
openaire   +6 more sources

Sustainable Carbon Fibers Enable Stable Long‐Term Lithium Metal Deposition for Prospective Zero‐Excess Lithium Metal Batteries

Advanced Energy Materials, EarlyView.
This work presents lightweight, lignin‐derived carbon fiber current collectors that enable controlled lithium deposition. Structural defects and intermediate‐sized pores stabilize pre‐nucleation quasi‐metallic lithium clusters, promoting uniform lithium plating and stripping.
Samantha L. S. Southern, Jonathon Cottom, Jana B. Fritzke, Emma N. Antonio, Zhenyu Guo, Bhavini Patel, Romain Tort, Ifan E. L. Stephens, Camilla Di Mino, Clare P. Grey, Rhodri Jervis, Emilia Olsson, Heather Au, Maria‐Magdalena Titirici   +13 more
wiley   +1 more source

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

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

Nanopore sequencing in veterinary medicine: from concepts to clinical applications

Frontiers in Cellular and Infection Microbiology
Oxford Nanopore Technologies (ONT) stands at the forefront of third-generation sequencing, utilizing a nanopore sequencing approach to achieve high-throughput DNA and RNA sequencing. This technology offers several key advantages, including real-time data
Maria Chaves, Amro Hashish, Amro Hashish, Iryna V. Goraichuk, Leonardo Cardia Casserta, Megan C. Mears, Eman Gadu, Eman Gadu, Abhijeet Bakre, Ellen Ruth Alexander Morris, Mostafa M. S. Shelkamy, Mostafa M. S. Shelkamy, Swathi Nadendla, Daniel R. Perez, Mohamed El-Gazzar   +14 more
doaj   +1 more source

High contiguity Arabidopsis thaliana genome assembly with a single nanopore flow cell

Nature Communications, 2018
Long-read sequencing technologies facilitate efficient and high quality genome assembly. Here Michael et al. achieve a fast reference assembly for Arabidopsis thaliana KBS-Mac-74 accession using the handheld Oxford Nanopore MinION sequencer and consumer ...
Todd P. Michael, Florian Jupe, Felix Bemm, S. Timothy Motley, Justin P. Sandoval, Christa Lanz, Olivier Loudet, Detlef Weigel, Joseph R. Ecker   +8 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

Oxford Nanopore Technology-Based Identification of an Acanthamoeba castellanii Endosymbiosis in Microbial Keratitis

Microorganisms
(1) Background: Microbial keratitis is a serious eye infection that carries a significant risk of vision loss. Acanthamoeba spp. are known to cause keratitis and their bacterial endosymbionts can increase virulence and/or treatment resistance and thus significantly worsen the course of the disease.
Sebastian Alexander Scharf, Lennart Friedrichs, Robert Bock, Maria Borrelli, Colin MacKenzie, Klaus Pfeffer, Birgit Henrich   +6 more
openaire   +3 more sources