Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
while one rare case of Leydig cell hypoplasia affected male sexual development due to underdeveloped Leydig cells in the testes. Additionally, four cases of neurodevelopmental disorders, each ...
Here, we report a systematic transcriptional atlas to delineate molecular and cellular heterogeneity in GA using single-cell RNA sequencing (scRNA-seq). Design We performed unbiased transcriptome-wide ...