Description: Lecture, two hours. Limited to Genetic Counseling students, and open to medical genetics, molecular and cytogenetics fellows with permission. Introduction to next generation sequencing (NGS) technologies, bioinformatics pipeline for analyzing NGS data, clinical interpretation of variants using ACMG guidelines, various databases used for variant interpretation, interpretation of exome clinical report, process of communicating results to patients and ethical, legal, and social implications (ELSI) of personal genomics. Offers hands-on laboratory-style experience to interpreting human exome/genome variants for genetics professionals and trainees. Students acquire necessary background to understand technical and analytical aspects of exome/genome test, make informed decisions about clinically relevant variants, and communicate results to patient or patient's family. Attendance at weekly Genome Data Board meeting is required. Letter grading.

Units: 3.0