Results 11 to 20 of about 383,646 (253)

Long-read sequencing transcriptome quantification with lr-kallisto. [PDF]

PLoS Computational Biology
RNA abundance quantification has become routine and affordable thanks to high-throughput "short-read" technologies that provide accurate molecule counts at the gene level.
Rebekah K Loving, Delaney K Sullivan, Fairlie Reese, Elisabeth Rebboah, Jasmine Sakr, Narges Rezaie, Heidi Y Liang, Ghassan Filimban, Shimako Kawauchi, A Sina Booeshaghi, Páll Melsted, Conrad Oakes, Diane Trout, Brian A Williams, Grant R MacGregor, Barbara J Wold, Ali Mortazavi, Lior Pachter   +17 more
doaj   +2 more sources

Long-read sequencing for diagnosis of genetic myopathies

BMJ Neurology Open
Genetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic ...
Gianina Ravenscroft, Roula Ghaoui, Ryan Davis, Kishore Raj Kumar, Karl Ng, Marina Kennerson, Dennis Yeow, Ira Deveson, Laura Ivete Rudaks, Pak Leng Cheong   +9 more
doaj   +3 more sources

Nanopore long-read sequencing of circRNAs [PDF]

Methods, 2021
Circular RNA (circRNA) is a group of highly stable RNA molecules with suggested roles in development and disease. They derive from linear pre-mRNAs when a 5'-splice site splices back to an upstream 3'-splice site in a process termed back-splicing. Most circRNAs are multi-exonic and may contain several thousand nucleotides.
Rahimi, Karim, Nielsen, Anne Færch, Venø, Morten, Kjems, Jorgen   +3 more
openaire   +3 more sources

DNA read count calibration for single-molecule, long-read sequencing

Scientific Reports, 2022
There are many applications in which quantitative information about DNA mixtures with different molecular lengths is important. Gene therapy vectors are much longer than can be sequenced individually via short-read NGS.
Luis M. M. Soares, Terrence Hanscom, Donald E. Selby, Samuel Adjei, Wei Wang, Dariusz Przybylski, John F. Thompson   +6 more
doaj   +1 more source

Long-read sequencing in human genetics [PDF]

Medizinische Genetik, 2019
Abstract Sanger sequencing revolutionized molecular genetics 40 years ago. However, next-generation sequencing technologies became further game changers and shaped our current view on genome structure and function in health and disease.
Kraft, Florian, Kurth, Ingo
openaire   +2 more sources

Are we there yet? Benchmarking low-coverage nanopore long-read sequencing for the assembling of mitochondrial genomes using the vulnerable silky shark Carcharhinus falciformis

BMC Genomics, 2022
Background Whole mitochondrial genomes are quickly becoming markers of choice for the exploration of within-species genealogical and among-species phylogenetic relationships. Most often, ‘primer walking’ or ‘long PCR’ strategies plus Sanger sequencing or
J. Antonio Baeza, F. J. García-De León
doaj   +1 more source

Will long-read sequencing technologies replace short-read sequencing technologies in the next 10 years?

African Journal of Laboratory Medicine, 2020
No abstract available.
Boluwatife A. Adewale
doaj   +1 more source

Long-read sequencing settings for efficient structural variation detection based on comprehensive evaluation

BMC Bioinformatics, 2021
Background With the rapid development of long-read sequencing technologies, it is possible to reveal the full spectrum of genetic structural variation (SV).
Tao Jiang, Shiqi Liu, Shuqi Cao, Yadong Liu, Zhe Cui, Yadong Wang, Hongzhe Guo   +6 more
doaj   +1 more source

Long-Read Sequencing Improves Recovery of Picoeukaryotic Genomes and Zooplankton Marker Genes from Marine Metagenomes

mSystems, 2022
Long-read sequencing offers the potential to improve metagenome assemblies and provide more robust assessments of microbial community composition and function than short-read sequencing.
N. V. Patin, K. D. Goodwin
doaj   +1 more source

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