A recent NxClinical case study features familial and trio analysis of a patient population in Costa Rica with a high prevalence of inherited retinal dystrophies. Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used NxClinical for integrative analysis of copy number, sequence variants, and autozygosity mapping to study 31 affected children from 23 Costa Rican families.
Whole-exome sequencing (WES) trio data was analyzed in NxClinical which allows for integrated analysis and visualization of copy number, sequence variants, and AOH. Such concurrent analysis facilitates identification of compound events as revealed in the study. Dr. Wolff found several features such as inheritance pattern and compound event filters and the ability to see read pile-ups in NxClinical to be extremely useful for trio and familial analysis. She and her team found a high degree of autozygosity in the affected probands and were able to identify founder mutations in RPE65. They were also able to identify compound heterozygous mutations in parents; Dr. Wolff found these events were easy to see and confirm due to the extensive visualization tools in the software.
Read more about Dr. Wolff's Costa Rican study.