Bioinformatics and NGS: From Big Data to Clinical Reports [Webinar]

Dr. Elaine Gee director of Bioinformatics is giving webinar on bioinformatics and NGS from large laboratory perspective
December 19, 2017

Elaine Gee, PhD, will talk in a webinar about ways that clinical healthcare providers can more effectively report next generation sequencing (NGS) results to patients, among other things.


Data from genomic testing starts as masses of numbers. Later it is converted to readable information. How does that happen?

Maybe, as a clinical healthcare provider, you’d like to know about more effectively reporting next generation sequencing (NGS) results to the patient by understanding the strengths and weaknesses behind the analytics?

Elaine Gee, PhD and former rocket scientist turned bioinformatician presented a live webinar, “A Quick Guide to the Analytics Behind Genomic Testing,” on Thursday, December 28. The webinar is now available here.

A clinical healthcare provider can be more effective in reporting NGS results to the patient by understanding the strengths and weaknesses of the analytics that generated the data for interpretation and by applying these limitations at the time of reporting.

Elaine Gee, PhD, ARUP Director of Bioinformatics.

As director of Bioinformatics at ARUP, Dr. Gee leads teams of bioinformaticians, software programmers, data engineers, and analysts to generate analytical pipelines for processing raw NGS data for germline and somatic variant calling, as well as applications in infectious disease. Her team has scaled best-practices pipelines, built compute infrastructure in the cloud, and created a robust genomic data warehouse. She received her PhD in biophysics from Harvard University and a bachelor of science in physics from the California Institute of Technology. We talked with Gee about why this presentation is a don’t-miss:

  1. This webinar will be on bioinformatics in clinical genomic testing by NGS from the perspective of a national reference laboratory. How will this perspective give us valuable information?

While boutique NGS companies typically offer a focused product line of genetic tests in either inherited disease, oncology, NIPT, or infectious disease, a national reference laboratory’s clinical genetic testing menu spans a wider breadth of NGS tests in order to support our clients across the country. For example, at ARUP this portfolio covers applications that include all those previously mentioned. That means that at a large national laboratory, the bioinformatics department is required to have a broad skillset to meet the analytic demands required to support the full spectrum of NGS tests.

  1. How important is it right now for clinicians to gain deeper and deeper knowledge of bioinformatics for genomic testing by NGS? How widely are these techniques known?

NGS is a scalable method that gives insight into a patient’s molecular profile through the simultaneous analysis of multiple genes of interest. Genetic testing by NGS relies heavily on bioinformatics analysis to yield results that can be used in clinical interpretation. A clinical healthcare provider can be more effective in reporting NGS results to the patient by understanding the strengths and weaknesses of the analytics that generated the data for interpretation and by applying these limitations at the time of reporting.

  1. How did you go about narrowing down and organizing the topics you’d present in this webinar?

I decided to focus on a high-level overview of the applications of bioinformatics in order to underscore what a crucial role analytics plays in the various avenues of genomic testing.

  1. What are you most excited to talk about in this webinar, and why?

I’ll be de-mystifying bioinformatics by showing how each analytic step has a concrete link back to the upstream laboratory process.

  1. What are some types of bioinformatics analyses supporting clinical genomic testing that you’ll discuss?

I’ll walk through a variant calling pipeline that is the basis for many bioinformatics applications in inherited disease and cancer genomic testing.

  1. Anything I haven’t asked about that you think should be mentioned and heard by anyone thinking of seeing the webinar?

Bioinformatics is a technically complex topic, and this webinar will break these analytic approaches down into key concepts. Understanding the fundamentals of bioinformatics is important in the fast-growing field of precision medicine. Genomics is big data and understanding how to process large volumes of clinical data requires skilled and analytical minds with an interest in applying computational methods to improve patient care. With the goal of making personalized medicine a reality for every patient, clinical genomic testing is growing, and this growth puts clinical bioinformaticians in high demand. We are increasing our bioinformatics team at ARUP and are currently looking to attract and hire interested talent.

Catherine Arnold, Science Communications Writer

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