Results 171 to 180 of about 65,196 (347)

Fast-bonito: A faster deep learning based basecaller for nanopore sequencing

, 2021
Zhimeng Xu, Yuting Mai, Denghui Liu, Wenjun He, Xinyuan Lin, Chi Xu, Lei Zhang, Xin Meng, Joseph Mafofo, Walid Abbas Zaher, Ashish Koshy, Yi Li, Nan Qiao   +12 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Additional file 1 of Targeted nanopore sequencing for the identification of ABCB1 promoter translocations in cancer

, 2020
Mark S. Williams, Naseer J. Basma, Fabio M. R. Amaral, Gillian Williams, John Weightman, Wolfgang Breitwieser, Louisa Nelson, Stephen S. Taylor, Daniel H. Wiseman, Tim C. P. Somervaille   +9 more
openalex   +1 more source

Understanding Neurodegenerative Diseases From the −Omics Perspective: Lessons Learnt

Annals of Neurology, EarlyView.
As the population ages, certain neurodegenerative diseases (NDs) are becoming a major health issue. For this reason, this review will focus on the most common ND with onset after 65 years old; Alzheimer's disease, Parkinson's disease, Lewy body dementia, and frontotemporal dementia.
Laura Ibanez, Cyril Pottier, Aleksandra Beric, Daniel Western, Muhammad Ali, Carlos Cruchaga   +5 more
wiley   +1 more source

DNA Nanopore Sequencing Basecaller

, 2021
Nanopore sequencing is one of the state-of-the-art sequencing technologies. It passes a DNA sample through a pore which changes the ionic current in the pore. Due to the size of the pore, there are usually five nucleotides (5-mer) present in the pore influencing the measured signal. Each of the 1024 possible 5-mers produces a different signal, and this
openaire   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

eLife Assessment: Barcode-free multiplex plasmid sequencing using Bayesian analysis and nanopore sequencing [PDF]

María Mercedes Zambrano
openalex   +1 more source

Nanopore sequencing and its application to the study of microbial communities

, 2021
Laura Ciuffreda, Hector Rodríguez‐Pérez, Carlos Flores   +2 more
openalex   +1 more source

Atomically Thin Sieves: Two‐Dimensional Materials for Membrane Separation

Advanced Physics Research, EarlyView.
Atomically thin membranes derived from 2D materials overcome the inherent selectivity‐permeability trade‐off in conventional separation technologies. This perspective elucidates transport mechanisms for gases, water, and ions, surveys fabrication strategies including top‐down pore engineering and bottom‐up synthesis, highlights recent experimental and ...
Yiran Gong, Pengzhan Sun, Yu Ji
wiley   +1 more source