Webinar: Real-World Examples of Efficiency Gains in the Analysis & Interpretation of Genomic Data

Thursday, November 14, 2019 11:00am EDT

Congenica Webinar Eva Serra Image-03

Dr. Eva Serra, PhD

Pre-registered Clinical Scientist
& Product Manager,

Congenica Webinar Mark Kiel Image-04

Dr. Mark Kiel, MD, PhD

Co-Founder & Chief Scientific Officer, Genomenon

In this webinar, Dr. Mark Kiel will welcome our guest Dr. Eva Serra, who will demonstrate Congenica, a way to overcome challenges in the analysis, interpretation and reporting of complex genomic data with an all-in-one solution that optimizes process efficiency from raw data to report.

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 Webinar

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.

This 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.


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.

About Congenica

Congenica significantly improves the workflow efficiency of NGS secondary and tertiary pipelines, integrating a number of best-in-class tools into a single all-in-one solution.

Congenica simplifies your workflows and maximizes diagnostic yield and confidence, empowering you to accurately make important clinical decisions and provide patients with life-changing answers faster than ever before.

Genomics England selected Congenica as the exclusive clinical interpretation solution for the UK NHS’ ground-breaking national Genomic Medicine Service. This achievement followed the platform’s extensive validation as part of the 100,000 Genomes Project and a competitive tender process involving the leading global providers in genomic data analysis.

Congenica is now being adopted internationally as the gold standard in data analysis and interpretation, empowering healthcare professionals to deliver world-leading genomic medicine services at scale.


About Genomenon

Genomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.

Our flagship product, the Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield and assure repeatability in
reporting genetic testing results.

We license our Mastermind Curated Genomic Datasets to pharmaceutical and bio-pharma companies to inform precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.