ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study performed long-read genome sequencing (lr-GS) using PacBio HiFi on several members of a four-generation family presenting with autosomal dominant (AD) 46,XY differences of sexual development (DSD). This family had undergone a lengthy molecular diagnostic process with no conclusive results. Lr-GS offers enhanced mapping capabilities in highly repetitive, homologous, and low-complexity regions, providing better assessment of structural variations and co...