Genome-wide analysis aids in diagnosing rare pediatric diseases
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
Minute Medicine Inc Rating Level Deciphering Developmental Disorders Developmental Disorders Gene Chronic Disease Deciphering Developmental Disorders Study
Source: 2minutemedicine.com