Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used N_xClinical 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, N_xClinical 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 N_xClinical 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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