In the Next-Gen Sequencing Informatics Track focusing on Advances in Large-Scale Computing

April 04, 2016

Marcia Nizzari, MS, CIO will speak at Bio*IT World Conference & Expo 2016 at the Seaport World Trade Center April 5-7. Ms. Nizzari’s talk is Thursday, April 7 at 2:30pm and is entitled “A Clinical Genetics Diagnostic System Incorporating Next-Gen Sequencing and Informatics to Advance Pediatric Genetics Care.”

The following is the summary of her talk which is included in the Track brochure: 
Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. We developed a unique “orthogonal sequencing” approach that simultaneously sequences exomes on both the Illumina NextSeq and the Life Technologies Ion Proton instruments. This talk will cover both the lab approach and the bioinformatics analysis pipelines, key components of Claritas’ enterprise architecture for pediatric precision care.

Below is the summary of the Next-Generation Sequencing Informatics Track:
Tremendous advancements have been made to broaden NGS applications from research to the clinic. Especially as genomics becomes more integrated with precision medicine initiatives. In spite of this, enormous challenges for NGS still exist including real-time sequencing, data storage, processing, scaling, quality control management, security and compliance in the cloud, and interpretation. Track 6 presents case studies on these challenges. More information on this Track can be found at the Bio*IT World website.