serval:BIB_86FB912BC94A
Inferring biogeographic ancestry with compound markers of slow and fast evolving polymorphisms.
10.1038/s41431-018-0215-2
000447273900018
29995845
Moriot
A.
author
Santos
C.
author
Freire-Aradas
A.
author
Phillips
C.
author
Hall
D.
author
article
2018-11
European journal of human genetics
1476-5438
1018-4813
journal
26
11
1697-1707
Bio-geographic ancestry is an area of considerable interest in the medical genetics, anthropology and forensics. Although genome-wide panels are ideal as they provide dense genotyping data, small sets of ancestry informative marker provide a cost-effective way to investigate genetic ancestry and population structure. Here, we investigate the performance of a reduced marker set that combine different types of autosomal markers through haplotype analysis. In particular, recently described DIP-STR markers should offer the advantage of comprising both, low mutation rate Indels (DIPs), to study human history over longer time scale; and high mutation rate STRs, to trace relatively recent demographic events. In this study, we assessed the ability of an initial set of 23 DIP-STRs to distinguish major population groups using the HGDP-CEPH reference samples. The results obtained applying the STRUCTURE algorithm show that the discrimination capacity of the DIP-STRs is comparable to currently used small-scale ancestry informative markers by approaching seven major demographic groups. Yet, the DIP-STRs show an improved success rate in assigning individuals to populations of Europe and Middle East. These data show a remarkable ability of a preliminary set of 23 DIP-STR markers to infer major biogeographic origins. A novel set of DIP-STRs preselected to contain ancestry information should lead to further improvements.
Evolution, Molecular
Genetic Markers
Genome, Human
Genotyping Techniques/methods
Genotyping Techniques/standards
Human Migration
Humans
Polymorphism, Genetic
eng
60_published
true
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
University of Lausanne
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