Results 231 to 240 of about 229,759 (254)

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Draft genome sequence of a novel species of <i>Radiobacillus</i> (strain PE A8.2) isolated from a red Antarctic seaweed. [PDF]

Microbiol Resour Announc
Goddard M, Leiva S.
europepmc   +1 more source

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders, EarlyView.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
wiley   +1 more source

DNA storage: The future direction for medical cold data storage. [PDF]

Synth Syst Biotechnol
Shen P, Zheng Y, Zhang C, Li S, Chen Y, Chen Y, Liu Y, Cai Z.   +7 more
europepmc   +1 more source

PathoSeq-QC: a decision support bioinformatics workflow for robust genomic surveillance. [PDF]

Bioinformatics
Leoni G, Petrillo M, Ruiz-Serra V, Querci M, Coecke S, Wiesenthal T.   +5 more
europepmc   +1 more source

Novel Molecular Methods in Soft Tissue Sarcomas: From Diagnostics to Theragnostics. [PDF]

Cancers (Basel)
Frazzette N, Jour G.
europepmc   +1 more source

Profiling of small RNAs derived from tomato brown rugose fruit virus in infected Solanum lycopersicum plants by deep sequencing. [PDF]

Front Microbiol
Chen M, Wang D, Yang J, Cao Y, Song X, Lu Y, Zheng H, Peng J, Wu G, Wu J, Li J, Chen J, Yan F, Rao S.   +13 more
europepmc   +1 more source

Cost-Effective Detection of SNPs and Structural Variations in Full-Length Genes of Wheat and Sunflower Using Multiplex PCR and Rapid Nanopore Kit. [PDF]

Biology (Basel)
Polkhovskaya E, Moskalev E, Merkulov P, Dudnikova K, Dudnikov M, Gruzdev I, Demurin Y, Soloviev A, Kirov I.   +8 more
europepmc   +1 more source

Toward the use of nanopore RNA sequencing technologies in the clinic: challenges and opportunities. [PDF]

Nucleic Acids Res
Katopodi XL, Begik O, Novoa EM.
europepmc   +1 more source

nf-core/pacvar: a pipeline for analyzing long-read PacBio whole genome and repeat expansion sequencing data. [PDF]

Bioinformatics
Jain T, Clelland C.
europepmc   +1 more source