This course introduces students to the analytical methods needed for a genetic evaluation of an anonymized human genomic provided by the instructors. This genome analysis knowledge is ultimately used to complete a Capstone Project (PMMSG 607). The objective of this course is for students to become familiar with the format in which a sequenced genome is provided and demonstrate the ability to use publicly available software to manipulate that genome sequence and search for the presence of health-related genetic variants.
In this course, students use the knowledge and skills acquired in previous required courses, particularly in PMMSG 606, to make a health-focused assessment of an anonymized human genome provided to them by the instructors. Students concentrate on identifying gene variants associated directly with genetic diseases or with increased risk for diseases, and evaluating the consequences of those gene variants. This course culminates in a written report of the findings and a formal presentation. The objective of this course is for students to demonstrate competence in basic genome analysis and assessment of genetic risk alleles.