1. In this cohort study, a combination of exome sequencing, microarray analysis, and phenotypic data improved the detection of rare pediatric diseases. 2. Several factors were identified that impact the probability of successful diagnosis, including the recruitment of a parent-offspring trio. Evidence Rating Level: 2 (Good) Study Rundown: Genomic sequencing has enabled significant progress in
Thanks to a recent nationwide study in the UK, approximately 5,500 individuals living with severe developmental disorders are now aware of the genetic cause underlying their conditions. "Getting the right diagnosis is absolutely critical for families