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Genome-Wide Association Studies (GWAS) is a powerful tool for identifying loci involved in the control of complex traits. In most GWAS, study participants are assumed to be unrelated and coming from a single population. However, even for carefully designed studies, some degree of relatedness and pop ...
Classical studies of consanguinity have taken advantage of the relationship between the gene frequency for a rare autosomal recessive disorder (q) and the proportion of offspring of consanguineous couples who are affected with the same disorder. We developed a new approach for estimating q using mut ...
Two individuals are (biologically) related if they share a common ancestor. In that case they may have derived regions of their chromosomes from a common ancestral chromosomes and thus they will, in the absence of mutations, have the same genetic material across these regions. We begin by consideri ...
Close kin relationships have a long history in human populations, as evidenced in modern Western societies by the genomic evidence of extensive runs of homozygosity (ROH) resulting from consanguineous unions in much earlier generations. Estimates of the numbers of mature adults who took part in the ...
Lectures from the 2012 edition of the ESGM Medical Genetics Course
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