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Consanguinity, that is the practice to get married between closely related individuals, is still a common habit in many regions of the world.
Studies into the influence of consanguinity on intellectual performance have produced quite varied results. In a small-scale USA study no significant effect was observed with respect to mean IQ but there was a significantly higher standard deviation in the IQ scores of first cousin progeny, which ra ...
Current biomedical research is experiencing a large boost in the amount of data generated. Individual genomes are being characterized at increased level of details using single nucleotide polymorphism (SNP) arrays, and, more recently, exome and whole-genome re-sequencing (WGRS). At the same time, te ...
Taybi-Linder syndrome/MOPD1 [OMIM 210710] is a rare recessive disorder characterized by brain and bone malformations and unexplained postnatal death. Only a small sample of patients without well-characterized consanguinity was available for study. Because genealogical information was unreliable, th ...
Current biomedical research is experiencing a large boost in the amount of data generated. Individual genomes are being characterized at increased level of details using single nucleotide polymorphism (SNP) arrays, and, more recently, exome and whole-genome re-sequencing (WGRS). At the same time, te ...
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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