Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used NxClinical 4.0 for integrative analysis of copy number, sequence variants, and autozygosity mapping to study 31 affected children from 23 Costa Rican families.
The Costa Rican population has distant relatedness; as a result, a high incidence of autozygosity and founder effects are predicted to have resulted in rare diseases. The population has an unusually high prevalence of inherited retinal dystrophies (RDs) which is a significant cause of childhood vision loss in Costa Rica.
In this study, NxClinical software facilitated trio and familial analysis revealing biallelic mutations in the RPE65 gene in 87% of affected individuals with four apparent founder mutations.
Key Benefits of NxClinical for this study:
• Integrated analysis and visualization of copy number, sequence variants, and AOH
• Compound event filtering quickly identified causative variants which could otherwise be missed when using multiple software platforms for analysis
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