Publications by authors named "Leslie Patricia Molina-Ramirez"
Article Synopsis
- The study explores the importance of efficient variant interpretation in diagnostic laboratories, particularly with the growing use of clinical exome sequencing (CES) for rare monogenic disorders.
- A retrospective analysis of 400 cases is conducted to evaluate the effectiveness of a clinician-led and phenotype-based method for creating customized virtual gene panels for CES.
- Findings reveal that the approach, which focuses on specific clinical features, achieved a 24% diagnostic rate while efficiently managing variant workload, showing it to be a cost-effective solution for genomic sequencing in clinical settings.
