Advanced Genetics
Master in Life Sciences, ENS – M1
2025-2026 - Semester 1
UNBIO1-122 - Advanced Genetics
6 ECTS
Year and Semester : M1 | S1
Duration : from September 19th 2025 to December 19th 2025
Hours : 2pm-5pm (Fridays)
1. Short Description of Course
This course explores the molecular mechanisms driving gene expression and genetic inheritance, with a focus on how genomic variation underlies the development of phenotypes.. Emphasis is placed on the interplay between genetic diversity and environmental factors in shaping expression patterns.
The curriculum delves into complex gene interactions, covering topics such as allelic series, epistasis, and metabolic dominance theory and it introduces the "genome-as-phenotype" concept, examining the roles of transposable elements, sex chromosome biology, and compensatory buffering mechanisms in shaping phenotypic outcomes.
Phenotypic variation is analyzed through quantitative frameworks to explain expressivity, penetrance, robustness, and canalization. The statistical genetics component emphasizes decomposition of phenotypic variance, heritability estimation, quantitative trait locus (QTL) mapping, and genome-wide association studies (GWAS) to uncover complex trait architecture and pleiotropic effects. The course will integrate concepts from population genetics and polygenic risk prediction, highlighting the role of phenotypic plasticity and environmental interactions in the genotype-phenotype relationship at both individual and population scales.
Maximum class size : 20 students.
The class is taught in English.
Keywords
Biology, life sciences, genetics, mutation, allelic series, dominance, epistasis, plasticity, epigenetics, TE, sex chromosomes, ploidy, expressivity, penetrance, robustness, canalization, heritability, animal model, QTL mapping, GWAS, pleiotropy, linkage disequilibrium, population structure, polygenic prediction, Human genetics
2. Registration
– Students external to the ENS Biology Department can attend and validate the class if the primary instructor has been contacted beforehand and agreed (see contact information below).
– Following approval, students need to register online at least one week before the course starting date.
3. Location and Timeline
Location : Biology Department, 3rd floor - at ENS, 46 rue d’Ulm, Paris.
Building entry with access card only (visitors must use the intercom at the entrance). The floor and class rooms are accessible without a badge. The building, floor and class room are generally accessible to people with disabilities.
Homework will consist in preparation of journal club discussion, slide presentations, and background reading.
4. Instructors and Contact Information
Primary instructors :
Gersende LEPERE
Henrique TEOTONIO
Preferred method of contact : email
5. Course Communications
Course materials (class syllabus, lecture slides, research articles, R scripts, etc.) will be made available on the Moodle platform.
Course announcements will be made by email and/or posted on Moodle.
6. Course Prerequisites or Co-requisites
Course prerequisites : students are required to have taken Molecular biology and genetics (L3), Math (L3), Biostats (L3).
Important concepts and skills to master : Mendelian genetics, linear regression, genome organization, DNA polymorphisms, mutations, meiosis, ploidy.
Level in programming : basic level in R.
7. Course Format, Teaching Methods, Special Activities
Course format and teaching methods : Lectures given by the primary instructors will be complemented with invited research seminars by external faculty, and student-led analysis and discussion of research articles.
At least one of the sessions will be a hands-on computer tutorial. Students are strongly encouraged to bring their own laptop with R studio installed prior to class.
8. Expected Learning Outcomes
Details to come.
9. Detailed Schedule and Content
There will be 13, on Friday 14h-17h, (see the general calendar for the dates, detailed schedule to be provided in the first class at the beginning of the course 19th September) :
1 Introduction (Mendelian Genetics)
2 Inverse Genetics (Mutation, promoter, enhancer, suppressor)
3 Gene Interactions (Allelic series)
4 Gene Interactions (Metabolic theory dominance, epistasis)
5 Plasticity and epigenetics
6 Expressivity and Penetrance (TD)
7 Expressivity and Penetrance (TD)
8 Genome as a phenotype (TE, Sex Chromosomes, Compensation)
9 QTL mapping and GWAS
10 Pleiotropy and linkage disequilibrium (TD)
11 Phenotypic variance decomposition (heritability, genomic prediction, polygenic score)
12 Genetic relatedness and the Animal Model (TD)
13 Human genetics
10. Evaluation and Grading
Students will be evaluated based on a written exam and small-group presentation of a research topic at the semester’s end.
Student-led presentation 40%
Final exam 60%
Total 100%
11. Required or Suggested Resources
Recommended reading list (available in the science library and from the instructors) :
– Alberts, B., Heald, R., Johnson, A., Morgan, D., Raff, M., Roberts, K., & Walter, P. (2024). Molecular Biology of the Cell. W. W. Norton & Company
– Gibson, G., & Muse, S.V. (2004). A Primer of Genome Science. Sinauer Associates
– Griffiths, A.J.F., Wessler, S.R., Carroll, S.B., & Doebley, J. (2015) An Introduction to Genetic Analysis.
– W. H. Freeman. Kearsey, M.J., & Pooni, H.S. (1996). The Genetical Analysis of Quantitative Traits. Chapman & Hall
– Lynch, M., & Walsh, B. (1998). Genetics and Analysis of Quantitative Traits. Sinauer Associates
– Weir, B.S. (1996). Genetic Data Analysis II : Methods for Discrete Population Genetic Data. Sinauer Associates.