Ancestry informative markers (AIMs) for Korean and other East Asian and South East Asian populations

Jung, JY; Kang, PW; Kim, E; Chacon, D; Beck, D; McNevin, D

Ancestry informative markers (AIMs) for Korean and other East Asian and South East Asian populations

Jung, JY Kang, PW Kim, E Chacon, D

Beck, D McNevin, D

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Publication Type:: Journal Article
Citation:: International Journal of Legal Medicine, 2019, 133 (6), pp. 1711 - 1719
Issue Date:: 2019-11-01

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Field	Value	Language
dc.contributor.author	Jung, JY	en_US
dc.contributor.author	Kang, PW	en_US
dc.contributor.author	Kim, E	en_US
dc.contributor.author	Chacon, D https://orcid.org/0000-0003-3729-1385	en_US
dc.contributor.author	Beck, D	en_US
dc.contributor.author	McNevin, D https://orcid.org/0000-0003-1665-3367	en_US
dc.date.available	2019-07-26	en_US
dc.date.issued	2019-11-01	en_US
dc.identifier.citation	International Journal of Legal Medicine, 2019, 133 (6), pp. 1711 - 1719	en_US
dc.identifier.issn	0937-9827	en_US
dc.identifier.uri	http://hdl.handle.net/10453/137651
dc.description.abstract	© 2019, Springer-Verlag GmbH Germany, part of Springer Nature. Inference of ancestry from biological evidence can provide investigative information, especially for unknown DNA donors. Although tools for predicting ancestry have been developing, ancestry research focusing on populations relevant for South Korea is not common and markers are seldom chosen specifically to differentiate Koreans from other East Asian and South East Asian populations. Here, we report ancestry informative markers (AIMs) for distinguishing six East/South East Asian regional populations: China, Japan, Indonesia, Philippines, South Korea and Thailand. Individual genotypes from these six populations were available in PanSNPdb: The HUGO Pan-Asian SNP Database. To select AIMs, we calculated four population divergence metrics for each SNP: Nei’s FST, Rosenberg’s Informativeness (In), the average absolute allele frequency difference between populations (δFmean) and the maximum allele frequency difference between populations (δFmax). Based on these values, we selected 100 single nucleotide polymorphisms (SNPs) for distinguishing the six populations, 13 of which exhibited large allele frequency differences between Koreans and non-Koreans. To assess the performance of the AIMs, we performed principal coordinates analysis (PCoA) on the individuals from all six populations and inferred ancestral population clusters using the STRUCTURE program. In conclusion, we found that the selected AIMs can be applied to distinguish the six East/South East Asian groups and we suggest the markers in this study will be helpful to establish ancestry panels for Korea and neighbouring populations.	en_US
dc.relation.ispartof	International Journal of Legal Medicine	en_US
dc.relation.isbasedon	10.1007/s00414-019-02129-7	en_US
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.classification	Legal & Forensic Medicine	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Genetic Markers	en_US
dc.subject.mesh	DNA Fingerprinting	en_US
dc.subject.mesh	Genetics, Population	en_US
dc.subject.mesh	Gene Frequency	en_US
dc.subject.mesh	Genotype	en_US
dc.subject.mesh	Polymorphism, Single Nucleotide	en_US
dc.subject.mesh	Principal Component Analysis	en_US
dc.subject.mesh	Databases, Genetic	en_US
dc.subject.mesh	Asian Continental Ancestry Group	en_US
dc.subject.mesh	Asia	en_US
dc.title	Ancestry informative markers (AIMs) for Korean and other East Asian and South East Asian populations	en_US
dc.type	Journal Article
utslib.citation.volume	6	en_US
utslib.citation.volume	133	en_US
utslib.for	0399 Other Chemical Sciences	en_US
utslib.for	0699 Other Biological Sciences	en_US
utslib.for	1103 Clinical Sciences	en_US
pubs.embargo.period	Not known	en_US
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Engineering and Information Technology
pubs.organisational-group	/University of Technology Sydney/Faculty of Engineering and Information Technology/School of Biomedical Engineering
pubs.organisational-group	/University of Technology Sydney/Faculty of Science
pubs.organisational-group	/University of Technology Sydney/Faculty of Science/School of Mathematical and Physical Sciences
pubs.organisational-group	/University of Technology Sydney/Strength - AAI - Advanced Analytics Institute Research Centre
pubs.organisational-group	/University of Technology Sydney/Strength - CFS - Centre for Forensic Science
pubs.organisational-group	/University of Technology Sydney/Strength - CHT - Health Technologies
utslib.copyright.status	closed_access	*
pubs.issue	6	en_US
pubs.publication-status	Published	en_US
pubs.volume	133	en_US

Abstract:

© 2019, Springer-Verlag GmbH Germany, part of Springer Nature. Inference of ancestry from biological evidence can provide investigative information, especially for unknown DNA donors. Although tools for predicting ancestry have been developing, ancestry research focusing on populations relevant for South Korea is not common and markers are seldom chosen specifically to differentiate Koreans from other East Asian and South East Asian populations. Here, we report ancestry informative markers (AIMs) for distinguishing six East/South East Asian regional populations: China, Japan, Indonesia, Philippines, South Korea and Thailand. Individual genotypes from these six populations were available in PanSNPdb: The HUGO Pan-Asian SNP Database. To select AIMs, we calculated four population divergence metrics for each SNP: Nei’s FST, Rosenberg’s Informativeness (In), the average absolute allele frequency difference between populations (δFmean) and the maximum allele frequency difference between populations (δFmax). Based on these values, we selected 100 single nucleotide polymorphisms (SNPs) for distinguishing the six populations, 13 of which exhibited large allele frequency differences between Koreans and non-Koreans. To assess the performance of the AIMs, we performed principal coordinates analysis (PCoA) on the individuals from all six populations and inferred ancestral population clusters using the STRUCTURE program. In conclusion, we found that the selected AIMs can be applied to distinguish the six East/South East Asian groups and we suggest the markers in this study will be helpful to establish ancestry panels for Korea and neighbouring populations.

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http://hdl.handle.net/10453/137651