Genetics and Genomics


Focuses on DNA sequence variations and the applications of genomic technologies

Course Directors: Ali Torkamani
Term: Spring (every other year)
Credits: 3.0

The focus of this course will be on genetics and genomics—particularly on the mapping and association of naturally occurring DNA sequence variations with disease—primarily in human populations, as well as the various applications of genomic technologies for the global molecular characterization of and perturbation of model systems. Basic DNA sequencing, genotyping technologies and their research and clinical applications will be discussed, as well as forward and reverse genetic mapping strategies for the identification of DNA sequence variations that influence phenotypic expression as well as the characterization of gene function. Multiple layers of “genetic” inheritance—from the genome to epigenome and microbiome will be discussed. The classes each week will be paired, with one didactic lecture to be offered on Monday and one student-led discussion-oriented session to be offered on Wednesday, involving two papers of relevance to the topic covered in the didactic. Students will be graded on their participation, presentations, a midterm exam and a final exam.

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