Results 11 to 20 of about 680,559 (291)
Towards population-scale long-read sequencing [PDF]
Nature Reviews Genetics, 2021 Long-read sequencing technologies have now reached a level of accuracy and yield that allows their application to variant detection at a scale of tens to thousands of samples. Concomitant with the development of new computational tools, the first population-scale studies involving long-read sequencing have emerged over the past 2 years and, given the ...
Wouter De Coster +2 more
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Long-read human genome sequencing and its applications
Nature Reviews Genetics, 2020 Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging ...
Glennis A. Logsdon +2 more
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Engineering psychrophilic polymerase for nanopore long-read sequencing
Frontiers in Bioengineering and BiotechnologyUnveiling the potential application of psychrophilic polymerases as candidates for polymerase-nanopore long-read sequencing presents a departure from conventional choices such as thermophilic Bacillus stearothermophilus (Bst) renowned for its limitation ...
Yaping Sun +6 more
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Deciphering Neurodegenerative Diseases Using Long-Read Sequencing [PDF]
Neurology, 2021 Neurodegenerative diseases exhibit chronic progressive lesions in the central and peripheral nervous systems with unclear causes. The search for pathogenic mutations in human neurodegenerative diseases has benefited from massively parallel short-read sequencers.
Su, Yun +12 more
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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
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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 +6 more
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Long-Read Annotation: Automated Eukaryotic Genome Annotation Based on Long-Read cDNA Sequencing [PDF]
Plant Physiology, 2018 Single-molecule full-length complementary DNA (cDNA) sequencing can aid genome annotation by revealing transcript structure and alternative splice forms, yet current annotation pipelines do not incorporate such information. Here we present long-read annotation (LoReAn) software, an automated annotation pipeline utilizing short- and long-read cDNA ...
David E. Cook +5 more
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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
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Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. [PDF]
, 2020 Recent efforts to comprehensively characterize great ape genetic diversity using short-read sequencing and single-nucleotide variants have led to important discoveries related to selection within species, demographic history, and lineage-specific traits.
Andrés, Aida M +7 more
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African Journal of Laboratory Medicine, 2020 No abstract available.
Boluwatife A. Adewale
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