Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes in a rapid, cost-effective fashion holds a lot of promise for both academic and clinical research labs interested in characterizing human genetic diseases.
Human genetic diseases are complicated since they can exhibit a lot of genetic and phenotypic variability. Researchers today can choose from numerous options to study diseases based on the levels of phenotypic heterogeneity observed; options include single-gene assays, gene panels, and whole exome or whole genome sequencing. The decreasing costs of whole exome and whole genome sequencing have prompted most clinical research labs to offer these services for unraveling relevant variants. However the high costs of data analysis and storage, and recent studies demonstrating the final variant yield of these broad approaches have prompted a shift towards more targeted panels for studying genetic disease in a clinical research setting.
In this webinar, our expert speakers will
- Discuss important considerations for designing targeted panels to study variants relevant to pediatric and adult-onset genetic diseases.
- Showcase specific examples to demonstrate the application of these panels in a clinical research lab
- Answer your questions live during the broadcast
Dr. Brian Meyer will discuss the development and application of a set of 13 inherited disease research panels for studying the Arab populations and Dr. Robert Sebra will discuss the application of a custom NGS panel for studying subjects enrolled in the Resilience Project.