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

Genome research - 20 Nov 2024

Hiatt Susan M, Lawlor James M J, Handley Lori H, Latner Donald R, Bonnstetter Zachary T, Finnila Candice R, Thompson Michelle L, Boston Lori Beth, Williams Melissa, Rodriguez Nunez Ivan, Jenkins Jerry, Kelley Whitley V, Bebin E Martina, Lopez Michael A, Hurst Anna C E, Korf Bruce R, Schmutz Jeremy, Grimwood Jane, Cooper Gregory M

Abstract excerpt

Variant detection from long-read genome sequencing (lrGS) has proven to be 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 diseases...

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Child
DNA Copy Number Variations
Genetic Variation
Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Neurodevelopmental Disorders

Sequence Analysis, DNA

Whole Genome Sequencing

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PMID: 39299904
DOI: 10.1101/gr.279227.124
PMCID: PMC11610584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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