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P607: Long-read sequencing enables discovery of disease genes in complex neurological phenotypes

Year: 2026

Type: conference-abstract

Abstract: Leveraging long-read sequencing in the clinical setting holds great promise for improving diagnostic yield, refining genotype–phenotype correlations, and informing patient management in rare and complex neurological diseases. Diagnosing rare diseases remains a significant challenge, with many conditions remaining unexplained despite prolonged diagnostic odysseys involving routine genome sequencing techniques. There are approximately 7,000 rare diseases, with around 80% having a genetic origin. Although individually rare, these diseases collectively affect 1 in 10 people in the US, representing a growing public health issue.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2026.104097

Authors: Angita Jain, Evan Udine, Joseph Farris, Mariely DeJesus Hernandez, Matheus Wilke, NiCole Finch, Richard Crook, Karthik Muthusamy, Ralitza Gavrilova, Marka van Blitterswijk, Eric Klee

Institution: Mayo Clinic

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W7133841447

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