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  • Titill er á ensku Detection of Inversion Polymorphisms in the Human Genome
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    While genome variation such as single nucleotide polymorphisms (SNPs), insertions and deletions (indels) is well characterized in humans, little is known about the number of inversion polymorphisms. In heterozygotes for different orientations of inversions, it is thought that the normal pairing of homologous chromosomes is impeded during meiotic cell division and thereby leading to a local suppression of recombination. This, in turn, leads to an accumulation of orientation specific mutations over time. The objective of this study was to devise and implement a novel method to detect inversion polymorphisms using dense microarray genotype data available at deCODE Genetics from 39,616 parents, for whom 2.4 million recombination events have been inferred based on meiotic transmission to 79,708 genotyped offspring. The aim was to discover inversions through the application of a novel test, wherein local recombination rates are compared between homozygotes and heterozygotes of potential tagging SNPs, such that a statistically significant suppression of recombination in the latter group is taken as evidence for the presence of an inversion. Our results demonstrate that this test has considerable specificity, detecting common and known inversions. They also indicate that no other inversions of comparable size and frequency are found in the Icelandic gene pool. However, a handful of candidates for smaller and/or less frequent inversions were detected.

  • 13.9.2016

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