Publications by authors named "Beatrice Anguiano"
Article Synopsis
- The study assessed the effectiveness of exome sequencing (ES) in diagnosing genetic disorders among pediatric and prenatal patients, particularly focusing on underrepresented minority (URM) and underserved (US) populations.
- The diagnostic yield was found to be 23.8%, with a higher success rate in pediatric patients (26.7%) compared to prenatal patients (19.0%).
- The results indicated no significant differences in diagnostic yield or inconclusive findings between URM/US and non-URM/non-US patients, highlighting ES's potential for diverse populations.
