2023
DOI: 10.1101/2023.10.14.23296971
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NanoRanger enables rapid single base-pair resolution of genomic disorders

Yingzi Zhang,
Chongwei Bi,
Seba Saleh Nadeef
et al.

Abstract: 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 sample requirements, and exorbitant cost. Genomic disorders represent an opportunity to demonstrate the unique capab… Show more

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