Article

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

2024-03-26

Abstract excerpt

Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular diagnostic yield for rare disease is not yet precisely characterized. We performed lrGS using Pacific Biosciences "HiFi" technology on 96 short-read-negative probands with rare...

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Literature Corpus work: 84a49bcc-94d5-528d-ae7b-daf8762a5044
DOI: 10.1101/2024.03.22.24304633

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