Runs of Homozygosis (ROH) are stretches of haplotypes that are identical by descendance (IBD). The distribution is really various around the globe. ROH load is informative about the history of a certain population, as it is the result of past demographic events. The study of ROH is useful for mapping recessive variants associated with genetic diseases. In this thesis, the main aspects regarding ROH are shortly exposed by referring to some articles found in literature about the topic. To apply practically what was previously learned, simple scans for different categories of ROH, were run using the software Plink and the statistical analysis were done with Excel. The aim was to test that the genome of different human groups is loaded with different ROH in length and number according to the demographic history and cultural costumes.

Runs of Homozigosity in Human Population

TREVISANELLO, SUSANNA
2023/2024

Abstract

Runs of Homozygosis (ROH) are stretches of haplotypes that are identical by descendance (IBD). The distribution is really various around the globe. ROH load is informative about the history of a certain population, as it is the result of past demographic events. The study of ROH is useful for mapping recessive variants associated with genetic diseases. In this thesis, the main aspects regarding ROH are shortly exposed by referring to some articles found in literature about the topic. To apply practically what was previously learned, simple scans for different categories of ROH, were run using the software Plink and the statistical analysis were done with Excel. The aim was to test that the genome of different human groups is loaded with different ROH in length and number according to the demographic history and cultural costumes.
2023
Runs of Homozigosity in Human Population
IBD
admixture
bottleneck
consanguinity
demographic history
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12608/67735