Article

NanoRanger enables rapid single base-pair resolution of genomic disorders

2023-10-15

Abstract excerpt

<h4>ABSTRACT</h4> Rare diseases affect around 350 million individuals globally, yet at least half of those with suspected Mendelian disorders remain without a precise molecular diagnosis despite advanced genetic testing using short read sequencing (SRS). Long-read sequencing (LRS) holds a promise in addressing this diagnostic gap although its clinical application is hampered by its complicated workflow, demanding...

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Literature Corpus work: fe7770c2-a78b-5a2a-820a-2e0cbe758bc8
DOI: 10.1101/2023.10.14.23296971

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