Bioinformatics & Computational Terminology for the Clinic: How to “Talk Shop” with a Lab with Rishona Lavy, MS, CGC & Brice Sarver, PhD

• Clinicians receive a substantial amount of information in a genetic testing report. Each report is the result of specialized teams coming together to assist in generating and interpreting results. A critical part of a genetic testing workflow is the computationally intensive analysis of raw sequencing data by bioinformatics and computational genetics teams. This webinar will focus on demystifying bioinformatics concepts in the context of clinical reports for NGS panel- and exome-sequencing tests, with a particular emphasis on the underlying details of some of the most commonly used terminology (e.g., depth, coverage, reporting ranges, etc.)

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Brice Sarver, PhD | Presenter

   

Brice Sarver, Ph.D., is a Senior Bioinformatics Scientist at Fluxion Biosciences. After graduating from Washington University in St. Louis, Dr. Sarver received his Ph.D. in biology, emphasizing bioinformatics, evolutionary genomics, and phylogenetics, from the University of Idaho. He subsequently completed a postdoc in computational genetics and mouse genomics at the University of Montana. Dr. Sarver is interested in the development of techniques and computational tools to analyze genomic data in non-model, near-model, and model systems, especially using high-performance computing. In particular, he is curious about how new and existing computational techniques can be leveraged to identify the genetic basis of human disease and build genomic datasets in non-model systems, such as those lacking a reference genome. He has led or contributed to studies in a variety of systems, including humans, mice, chipmunks, bears, and fungi. 

Rishona Lavy, MS, CGC | Presenter

   

Rishona Lavy, MS, CGC, received a BS in biology and a minor in psychology from McGill University in 2004, and an MS in genetic counseling from California State University, Northridge in 2008. She spent the first part of her career as a prenatal genetic counselor, providing services to diverse patient populations in person, over the phone, and via telemedicine. She joined Ambry in 2015 as a general genetics reporting genetic counselor and after two years transitioned to the exome reporting team. She currently works cross-specialty, working on both exome sequencing reports and panel reports from the general genetics and neurology test menus. Additionally, she is involved in coordinating and leading discussions and educational trainings for internal teams, and she recently joined the ClinGen monogenic diabetes variant curation expert panel.

Tara Namey, MS, LCGC | Moderator

  

Tara Namey joined Ambry Genetics in 2016 as an Oncology Genetic Specialist.   Prior to joining Ambry, Tara was employed for 16 years at Lehigh Valley Health Network during which time she played an integral role in the development and growth of the Greg and Lorraine Harper Cancer Genetics Program.  During her time there, Tara served as both Manager and Senior Genetic Counselor.  Tara received her Bachelors of Science degree in Biology/Pre-Med from the University of Scranton.  She earned her Masters of Science degree in Genetic Counseling from California State University, Northridge and is board-certified by the American Board of Genetic Counseling.