Genomic data analysis is a time-consuming and intensive process. Transforming raw next-generation sequencing (NGS) data into meaningful information that can be incorporated into patient care for targeted therapy, disease diagnosis, and management requires immense scientific, clinical, and technical expertise.
In this webinar, Dr. Serra will present recent studies that detail the true time and cost implications of NGS data analysis, and provide clinical examples of where workflow efficiency has been optimized using the Congenica clinical decision support platform – an integrated solution for the analysis and interpretation of complex genomic data. Dr. Kiel will then demonstrate how the Mastermind Genomic Search Engine can be used within the Congenica platform to expedite the literature curation process for variant interpretation. The webinar will focus on actual clinical cases to explore how these efficiency savings can be adopted by your lab to increase case throughput, diagnostic yield, and confidence in every diagnosis, and you will learn:
- How to recognize the hidden costs and inefficiencies of NGS data analysis;
- How to maximize workflow efficiency and diagnostic yield using advanced clinical decision support software;
- How this method has been applied to real-life clinical cases.
About the Speakers:
Eva Serra, PhD, Pre-registered Clinical Scientist & Product Manager, Congenica
As part of the Congenica Clinical team, Eva contributed to the analysis of rare disease patients in the Genomics England 100,000 Genomes project, and is actively working on clinical interpretation of patient data from other projects. As a Product Manager, Eva drives the integration of new product features into Congenica’s platform.
Eva holds a MSc in Human Genetics from Imperial College London and a PhD in Human Genomics (Bioinformatics) from the Wellcome Sanger Institute and the University of Cambridge. Eva’s PhD research focused on using large-scale exome and whole-genome sequencing to understand the genetic basis of rare and complex diseases, with particular interest in congenital hypothyroidism, very-early-onset inflammatory bowel disease (IBD) and adult IBD.
Mark Kiel, MD PhD, Chief Science Officer and Founder, Genomenon
Dr. Kiel is Founder and Chief Science Officer at Genomenon, where he oversees the company’s scientific direction and product development. Prior to starting Genomenon, Mark completed his residency in Clinical Pathology in 2014 at the University of Michigan. While at Michigan, he completed a fellowship in Molecular Diagnostics and devised the informatics framework for clinical next-generation sequencing in the Molecular Diagnostics Laboratory.
During his doctoral studies, he made ground-breaking contributions to the study of hematopoietic stem cells, for which he was awarded the Weintraub International Graduate Student Award and the ProQuest Distinguished Dissertation Award. While a post-doctoral researcher, he made significant contributions to the field of Hematopathology, including genomic profiling of lymphoid malignancies, for which he was awarded the Benjamin Castleman Award.