THREE-DIMENSIONAL MODELING

Course objectives

Learning outcomes: Provide the student with the basics of counseling and diagnostics in Medical Genetics

Channel 1
IRENE BOTTILLO Lecturers' profile

Program - Frequency - Exams

Course program
Contents: Introduction to Human Genome: organization, protein-coding genes, gene families, pseudogenes, ncRNAs, DNA methylation Human Genetic Diversity: pathogenic and benign variants (SNPs, Indels, CNVs, Inversions) Genome analysis: genomic array and DNA sequencing Prenatal Diagnosis and Screening Principles of bioinformatics Genetic counselling Imprinting disorders
Prerequisites
Requirements: Basic knowledge of statistics, history of medicine, basic biology, basics of clinical medicine
Books
Suggested Textbooks: · Thomson and Thomson, Genetics in Medicine, Elsevier, VIII Edition, 2016
Frequency
Mandatory
Exam mode
Evaluation methods: Written Exam (MCQs); oral exam only upon request and after written exam.
  • Academic year2025/2026
  • CourseMedicine and Surgery
  • CurriculumSingle curriculum
  • Year2nd year
  • Semester1st semester
  • SSDMED/03
  • CFU1