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 illustrate the main approaches of genomic analysis. The first part of the course will be used to understand the structure and evolution of the genome that are the main requirements and then move on to genomic analysis methods. Students will then learn to apply DNA-based microarrays and next-generation sequencing technologies, addressing their problems and understanding their perspectives.

The student is supposed to know the basic genetics and the modalities of transmission of Mendelian diseases. Moreovere the students must know the main molecular genetic 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

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.