BIN717 CLINICAL BIOINFORMATICS

Course Objectives

Students who successfully completes the course will:

• Understand the emerging roles and responsibilities of bioinformaticians in clinic
• Overview the general principles of genomics research, human genome sequence and variations
• Learn the genetic models of inheritance and diseases.
• Review the current software/tools/platforms, and relevant genomic/bioinformatics resources for the analysis of the genomic data
• Gain further experience on computer programming and statistical skills for the analysis of large data sets 
• Learn strategies to produce accurate variant lists for further validation, and clinical interpretation

Course Content

Translation of bioinformatics application into healthcare is leading the predictive medicine and allow personalized approaches in both diagnosis and treatment. Thus there is an emerging need for bioinformatics who can analyze and interpret results of large genomics data sets and manage investigation of disease related variations and genes. Through formal lectures, students will learn the fundamentals of clinical bioinformatics, review the current software/tools/platforms, and relevant genomic/bioinformatics resources for the analysis of the genomics data. Critical reading assignments and discussion of case studies will allow students to understand current strategies, bioinformatics pipelines, and standard procedures. The program students who have completed the course will be informed about the current applications of bioinformatics in medical genetics and trained in clinical uses of bioinformatics.

Course Learning Outcomes

Student, who passed the course satisfactorily will be able to:

• select right molecular analysis for different cases.
• outline the genetic model of inheritance 
• produce accurate variant lists for further validation, and clinical interpretation
• Suggest appropriate bioinformatics pipelines, standard operating procedures and strategies for different groups of diseases, clinical cases or research goals.