Comparative and medical genomics

Objectives in terms of knowledge (course content) :

• Basic concepts and methodologies used in comparative genomics (orthology, paralogy, synteny, evolutionary rates…)
• Evolution of prokaryotic and eukaryotic genomes (mechanisms and evolutionary trends)
• Applied Comparative Genomics: phylogenetic footprinting, phylogenetic profiles, prediction of functional links, identification of targets by genotype/phenotype correlations…
• Population genomics
• Personal and medical genomics: variations and polymorphism, types of personal genomic data, detection and prioritization of variants, examples of large-scale projects

Objectives in terms of acquired skills :

Mastery of main internet resources dedicated to comparative genomics
Ability to mobilize multidisciplinary knowledge
Ability to develop an integrative strategy to answer a complex biological problem
Ability to analyse personal NGS data to identify variants (quality, mapping, variant calling)
Ability to prioritize candidates to identify disease–causing variants
Capacity for a critical analysis of high-throughput data
Awareness of ethical issues raised by patient data