Tag: <span>Nanopore</span>

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Nanopore sequencing quickly and accurately diagnoses rare genetic disorders
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Nanopore sequencing quickly and accurately diagnoses rare genetic disorders

by Elsevier Credit: Unsplash/CC0 Public Domain Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular cytogenetic testing. This facilitates earlier diagnosis of genetic disorders and accelerates appropriate clinical management for patients and...

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Long-Read Genome Assemblies Have Many Errors in Protein-Coding Regions, Study Finds

NEW YORK (GenomeWeb) – Researchers at the University of Edinburgh have found that three published long-read human genome assemblies — two from Pacific Biosciences sequencing data alone and one from Oxford Nanopore and Illumina data — contain considerably more errors in protein-coding regions than short-read assemblies. As a result, they suggested, more efforts should go...