long-read sequencing

Harnessing Long-Read Sequencing to Revolutionize Diagnosis and Equity in Differences of Sex Development (DSD)

Long-read sequencing (LRS) improves genetic diagnosis of Congenital Adrenal Hyperplasia and other DSDs by resolving complex genomic variants, tightening phenotype-genotype correlations, and closing equity gaps in clinical care.

Clinical Long-Read Sequencing: A Game-Changer in Pediatric Genetic Disease Diagnosis