Copy number and sequencing analysis of children and families with heritable retinal dystrophies in Costa Rica: High prevalence of mutations in regions of autozygosity
Daynna Wolff, Ph.D., FACMG
Tuesday, October 31, 2017
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Chapters
Introduction
Costa Rican Population
Study Design/Patients
Methods
Copy Number Analysis
Autozygosity mapping
High incidence of RPE65 mutations
Recurrent Hotspot 20 bp Deletion in RPE65 Likely a Founder mutation in Costa Rica
Trio-analysis – WES of 14 exons of RPE65
Trio Analysis - Affected Child and Affected parents
Overall Results
Conclusions
Acknowledgements
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