Ateneo - UPO

Human Genome Project. Structure and Evolution of the Human Genome. Methods of studying monogenic and multifactorial diseases. Analysis of genomic rearrangements by CGH array. Next Generation Sequencing Techniques (NGS). Genomic imprintig. Methods for studying epigenetic variations in the Human genome.

Articles in Juornals chosen by the Professor

The course aims to outline the main approaches to genomic analysis. The first part of the course focuses on understanding genome structure and evolution—key prerequisites for subsequently exploring genomic analysis methods. Students will learn to apply technologies based on DNA microarrays and next-generation sequencing, addressing associated challenges and understanding their potential applications.
Students are expected to have a background in basic genetics and the inheritance patterns of Mendelian diseases, as well as familiarity with key molecular genetics techniques.
Lectures with slides; student seminars to explore topics covered in class; interactive quizzes; computer lab exercises.

Final written exam with open-ended questions
Oral exam
Human Genome Project: key milestones and methodology
Structure and evolution of the human genome; chromatin and chromosome structure; transposable elements; transposon function during evolution; repetitive sequences; significance of Copy Number Variations (CNVs).
Genome analysis; methods for studying monogenic and multifactorial diseases; analysis of genomic rearrangements via array CGH; Next-Generation Sequencing (NGS) techniques.

The course aims to outline the main approaches to genomic analysis. The first part of the course will focus on understanding genome structure and evolution—key prerequisites for subsequently exploring genomic analysis methods. Students will then learn to apply technologies based on DNA microarrays and next-generation sequencing, addressing the associated challenges and understanding their potential applications. Students are expected to have a background in basic genetics and the inheritance patterns of Mendelian diseases, as well as familiarity with key molecular genetics techniques.

Frontal lessons with slides. Student seminars as an in-depth study of topics covered in class. Tutorials through interactive quizzes. Exercises in the computer classroom

Exercises involving interactive quizzes will be conducted.

The final exam for the comprehensive course will consist in a written exam including all the three subjects of the course, namely Genomic Analysis, Regulation of gene expression and Genetics. For each subjects there will be four statements requiring the answer true/false and eventually a brief comment of maximum 10 lines.

The maximum time allowed will be 90 minutes.

The results will be given within three-four days and if the student wishes to increase the grade he/she can do an oral exam.

Human Genome Project: the main stages of the project and the methodology
Structure and Evolution of the Human Genome. Chromatin and chromosome structure. Transposable elements in the genome. Transposons function during evolution. Repeated sequences in the genome. Function of Copy Number Variations.
Genome analysis. Methods of studying monogenic and multifactorial diseases. Analysis of genomic rearrangements by CGH array. New Generation Sequencing Techniques (NGS). Genome sequencing. Exome sequencing. Sequencing of the transcriptome.
Genomic imprintig. Methods for studying epigenetic variations in the Human genome. Analysis of genomic methylation.
Identification of genes that cause genetic diseases in humans through NGS. Study of multifactorial diseases by GWAS (Genome wide association study).

Extensive knowledge of the Human genome and of new generation genomic analysis methods with particular attention to the identification of genes involved in genetic diseases.