Expanded Carrier Screening Clinical Research with Ion Torrent CarrierSeq ECS

The advent of massively parallel next‐generation DNA sequencing (NGS) technologies has provided opportunities to radically improve strategies for carrier screening research. Compared with conventional genotyping‐based carrier screening, which, due to numerous cost and technical limitations, is typically designed to detect a limited number of mutations for each disease, NGS provides increased accuracy (Grody et al. 2013). In this presentation, Bruno Coprerski, Head of IVF, will discuss the state of carrier screening research in Brazil and why he choose Ion Torrent CarrierSeq ESC for carrier screening in his clinical research lab. Mr Coprerski will discuss the challenges he faced during the implementation and validation of CarrierSeq ECS, how he overcame those challenges and what he learned during the process.

 

Learning Objectives