Lectures and seminars The genetics of incomplete penetrance: from population cohorts to rare disease patients
Why do some individuals carrying the same genetic variant show different outcomes? Assistant Professor Sanna Gudmundsson studies the genetics of incomplete penetrance using both large population cohorts and rare disease families.
Sanna Gudmundsson´s recent work combines analyses of over 800,000 genomes with studies of 4,325 families to identify factors that influence whether a genetic variant leads to a phenotype. Particular attention will be given to CHD8, one of the most strongly established autism genes, providing new insights into variability among variant carriers.
Welcome! Sandwiches and coffee will be served. No registration is required.
Background reading:
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database: https://www.nature.com/articles/s41467-025-61698-x
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology: https://www.medrxiv.org/content/10.64898/2026.10.05.26364218v1