Clinical long-read sequencing test for genetic disease diagnosis

Authors: Isabelle Thiffault, PhD¹, Emily Farrow, PhD¹; Cassandra Barrett, PhD² et al. 1 Department of Pathology and Laboratory Medicine, Children’s Mercy Kansas City, Kansas City, Missouri 2 Division of Clinical Genetics, Department of Pediatrics, Children’s Mercy Kansas City, Kansas City, Missouri 3 Genomic Medicine Center, Department of Pediatrics, Children’s Mercy Kansas City, Kansas City, Missouri

This landmark study demonstrates how HiFi sequencing can transform pediatric disease discovery by delivering 10% higher success over all prior testing methods, helping to provide families with results in <1 month vs. 3, and reducing the need for multiple stressful and costly rounds of testing.

Journal: JAMA Pediatrics
DOI: 10.1001/jamapediatrics.2025.3320
Year: 2025

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