Genomic inbreeding and its contribution to the study of human diseases
Anne-Louise Leutenegger, Inserm NeuroDiderot
Tuesday April 13, 12-1pm
Zoom Link: https:/mcgill.zoom.us/j/91589192037
Abstract: Couples of close relatives (second cousins or closer) and their offspring represent about 10% of the world population. Related individuals are individuals who have at least one ancestor in common. The genetic consequence of this shared ancestry is that alleles may be received identical by descent (IBD) from one of the ancestors. These IBD alleles may be shared between individuals (relatedness) or within an individual (inbreeding).
Historically the estimation of relatedness and inbreeding has been done relying on pedigree information. But with the advent of high throughput technologies allowing to produce large amounts of genomic information, reliable estimation from the genome can now be obtained.
I will first present how this dense genomic information can be used to estimate inbreeding, how it differs from the information provided by pedigrees and which inference models are used and their relative merits. I will then present how these developments have been of interest for disease gene mapping.