ey0021.6-7 | Clinical and Molecular Insights into SF1 Deficiency | ESPEYB21
GF Del Gobbo
, X Wang
, M Couse
, L Mackay
, C Goldsmith
, AE Marshall
, Y Liang
, C Lambert
, S Zhang
, H Dhillon
, C Fanslow
, WJ Rowell
, Canada Consortium Care4Rare
, CR Marshall
, KD Kernohan
, KM Boycott
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...