Article

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases

2024-04-09

Abstract excerpt

<title>Abstract</title> <p>With ongoing improvements in accuracy and capacity to detect complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly in rare disease settings, where nearly half of patients remain undiagnosed using existing technologies. Here, we report a simplified funnel-down filtration strategy aim...

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Literature Corpus work: b714337d-9f58-57af-ab26-2ec38c5a66df
DOI: 10.21203/rs.3.rs-4235049/v1

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