This course aims to capacitate students, healthcare professionals, bioinformaticians, and researchers with a thorough understanding of AI, and genomics. Through an integrated blend of theoretical knowledge and hands-on training, participants will critically engage with the evolving landscape of bioinformatics and genomic data analysis.
Participants will develop foundational knowledge of performance metrics of AI machine learning algorithms, including performance metrics relevant to classification tasks within bioinformatics contexts, enabling responsible evaluation and implementation of AI tools. The course underscores the importance of ethical principles, addressing data privacy, confidentiality, and the potential risks associated with genetic discrimination and regulation compliance to promote ethical research and practice.
A core componet of the course focuses on understanding genomic analysis pipelines, their structure, purpose, and ability to enhance reproducibility and efficiency in large-scale genomic data processing. Practical skills will be fostered through applying command-line tools such as FastQC for quality control, performing chromosome-specific data extraction, sequence alignment with BWA, variant calling with FreeBayes, and interpreting VCF files.
Learners will critically analyse genetic variants by annotating data with VEP and ClinVar, evaluating disease associations and variant effects, while navigating bioinformatics platforms like Galaxy for data management, workflow automation, and reproducibility assurance.
By integrating ethical considerations with technical competence, the course aims to contribute to capacitating learners/attendees with genomic medicine, ensuring responsible data stewardship, and contributing effectively to healthcare innovation through early robust bioinformatics practices.