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Research Letter

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis

JAMA Pediatrics 10.1001/jamapediatrics.2025.3320

September 22, 2025 at 11:00 AM EDT

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This diagnostic study examines the diagnostic yield and turnaround time of long-read sequencing compared to standard-of-care approaches.

Corresponding Author: Tomi Pastinen, MD, PhD, Children’s Mercy Kansas City, 2401 Gillham Rd, Kansas City, MO 64108 (tpastinen@cmh.edu).

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