Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.

Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants (SVs); however, its application in large-scale genomic studies has been limited by challenges in sample preparation and high costs.

Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.

Background/objectives: Genetic variants in PRSS1 encoding human cationic trypsinogen are associated with hereditary pancreatitis. The clinically frequent variants exert their pathogenic effect by increasing intrapancreatic trypsin activity, while a distinct subset of variants causes disease via mutation-induced trypsinogen misfolding and endoplasmic reticulum (ER) stress. Here, we report a novel misfolding PRSS1 variant.

Endoscopic cystostomy and biliary sphincterotomy for choledochoceles: A pediatric case series.

Management of choledochoceles (type III choledochal cysts) in children varies. We highlight the potential role of endoscopic management of choledochoceles with cystostomy and biliary sphincterotomy through a series of three successfully treated pediatric patients aged 12-13 at our tertiary center. Patients presented with symptoms including abdominal pain and pancreatitis.