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

Genetics in Medicine Open 2026 Open access

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Authors: Angita Jain, Evan Udine, Joseph D. Farris, Mariely DeJesus Hernandez, Matheus Vernet Machado Bressan Wilke, NiCole A. Finch, Richard Crook, Karthik Muthusamy, Ralitza Gavrilova, Marka van Blitterswijk, E. B. Klee
DOI: 10.1016/j.gimo.2026.104097
Cited by: 0

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.

Fields of Study & Subjects

Genomics and Rare Diseases Hereditary Neurological Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104097–104097
Publication date
1 January 2026
Language
EN