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.)

   

Brice Sarver, Ph.D., is a Bioinformatics Scientist at Ambry Genetics. 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, 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.

   

Shreya Malhotra is an oncology genetic specialist at Ambry Genetics for the coastal region of the USA. She received her MS in Genetic Counseling from Sarah Lawrence College. In her current role, she serves as a clinical liaison for the field team to educate health care providers and other key opinion leaders on genetic testing and genomic medicine.  Prior to her role at Ambry, Shreya served as the genetic counselor and clinic/ research coordinator for the PTEN clinic at Cleveland Clinic. Shreya received her BS in Economics from New York University. She is passionate about cancer genetics, business development and clinical research.

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  • Fri, October 11, 2019
  • 12:00pm PDT
  • Duration: 1 hour
  • C.E.U. 1 unit
  • P.A.C.E. 1 unit

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