Duration
20h Th
Number of credits
| Master in biomedicine (120 ECTS) | 2 crédits |
Lecturer
Language(s) of instruction
French language
Organisation and examination
Teaching in the first semester, review in January
Schedule
Units courses prerequisite and corequisite
Prerequisite or corequisite units are presented within each program
Learning unit contents
"Essential human genomics" provides a general introduction to the field of medical genomics.
The course comprises five sections corresponding respectively to:
Chapter I: The reference human genome
Chapter II: Individual genomes
Chapter III: Individual phenomes
Chapter IV: Genetic dissection of the functional circuitry
Chapter V: Applied medical genomics
Learning outcomes of the learning unit
At the end of this course, the student will be familiarized with:
- The organisation and main features of the human genome, sequencing technologies and methods used for the annotation of reference genomes.
- Basic concepts in population and evolutionary genomics including the different types of genetic variants, the origins of genetic polymorphism, the notion of linkage disequilibrium and haplotype blocks, the main genotyping methods, the methods used for the reconstruction of our evolutionary history, and the genomic signatures left by the main selective forces.
- Basic concepts in factorial and quantitative genomics including the distinction between mono-, oligo- and polygenic traits, the molecular basis of dominance and recessivity, the different types of epistatic interactions, kinship and inbreeding, heritability and how it is computed, the difference between direct and indirect genetic effects, and genetic correlation. The student will understand the relative contribution of germline and somatic mutations/variants in the development of cancers.
- The principal genetic approaches that are used to identify the variants and genes that underpin phenotypic differences between individuals, and in particular the notions of positional cloning, as well as forward and reverse genetics, gene ontology and lineage tracing.
- The main applications of medical genomics including preconception carrier screening, preimplantation and prenatal diagnosis, pediatric genomics, pharmacogenomics, polygenic risk scores, and cancer genomic profiling.
Prerequisite knowledge and skills
Notions de base de biologie moléculaire du gène, de calcul de probabilité et de statistiques.
Planned learning activities and teaching methods
The course is composed of ten 2-hour sessions for a total of 20 hours of face-to-face lectures. Each session is devoted to one halve of one of the five chapters. The students are expected to prepare each lecture by having read the lecture notes for the corresponding half chapter prior to the lecture. The students are expected to formulate questions for the corresponding half-chapter and communicate these to the teacher either before (on the eCampus discussion platform) or during the lecture. The teacher will address the raised questions during the lecture.
The lecture notes '"Essential human genomics" that can be downloaded from the UAG website or the eCampus platform.
Mode of delivery (face to face, distance learning, hybrid learning)
Face-to-face course
Recommended or required readings
Lecture notes and slide shows donwloadable from the UAG website or eCampus.
Exam(s) in session
Any session
- In-person
written exam ( multiple-choice questionnaire )
Work placement(s)
Organisational remarks and main changes to the course
Contacts
Michel Georges : michel.georges@uliege.be
Caroline Hupperts: chupperts@uliege.be
Miyako Sakai : miyako.sakai@uliege.be
Association of one or more MOOCs
There is no MOOC associated with this course.