Webinar אונקוטסט ואינוויטה (Invitae): בנושא Weighing the Evidence
אנחנו מתכבדים להזמינך ל-webinar של אונקוטסט-טבע ואינוויטה (Invitae) שיתקיים ב 02/12/2014.
Weighing the evidence: Classifying genetic variants for clinical practice
Scott Topper, Ph.D., FACMG, and Keith Nykamp, Ph.D., Invitae
Tuesday, December 2
10:00 am Pacific / 1:00 pm Eastern
20:00 Israel time
A rigorous, reproducible and transparent variant classification system is a cornerstone of the practice of clinical molecular genetics. In this seminar, we will discuss the kinds of evidence considered in an interpretation, caveats associated with those evidence types, and the methods Invitae employs to synthesize multiple lines of evidence into a final interpretation. We will also discuss our experiences implementing and augmenting the upcoming revisions to the ACMG/AMP/CAP classification guidelines (2014 draft).
Defining the Questions
Scott Topper, Ph.D., FACMG, will discuss the intellectual framework that guides the approach to variant interpretation, the questions asked during the variant classification process, the types of evidence reviewed, and possible pitfalls associated with different evidence types.
Behind the Scenes
Keith Nykamp, Ph.D., will introduce the evidence structure behind Invitae’s variant classification system and illustrate the application of this system with case studies. He will also demonstrate how the evidence and logic behind a variant classification is presented in the clinical report.
About the speakers
Scott Topper is dedicated to making clinically useful genetic information accessible and understandable to physicians, patients, and families. Prior to joining Invitae, Scott was the Assistant Director of the University of Chicago Genetic Services Lab, where he established the system for diagnostic next-generation sequencing and completed his training in clinical molecular diagnostics. He has served on the scientific advisory board of the Center for Jewish Genetics and holds a Ph.D. in Genetics from the University of Wisconsin-Madison.
Keith Nykamp is inspired by the depth of information that can be found in our genomic sequence and motivated by the impact this information can have on personal health. To support the use of genomic information in healthcare, he is working to establish a robust and reliable evidence-based system for variant classification, with an eye towards scalability and consistency across genes and disease areas. Keith holds a Ph.D. from the University of Florida and has studied the influence of genetic variation on phenotype in academic and diagnostic settings for more than 15 years.