Inherited and de novo variation in human genomes

Most human traits, ranging from physical appearance to behavior and disease susceptibility, are in part inherited through genetic material. Whole-genome sequencing has enabled the complete characterization of human genetic variation. While most of common DNA sequence variation has been observed in genetic studies from worldwide populations, rare genetic variation is more geographically clustered and requires many more individuals from diverse populations to be studied. In this thesis I describe the genetic variation in 250 Dutch parent-offspring families from the Genome of the Netherlands (GoN... Mehr ...