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AdmixKJump: identifying population structure in recently diverged groups

MOTIVATION: Correctly modeling population structure is important for understanding recent evolution and for association studies in humans. While pre-existing knowledge of population history can be used to specify expected levels of subdivision, objective metrics to detect population structure are im...

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Autor principal: O’Connor, Timothy D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325960/
https://www.ncbi.nlm.nih.gov/pubmed/25678934
http://dx.doi.org/10.1186/s13029-014-0031-1
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author O’Connor, Timothy D
author_facet O’Connor, Timothy D
author_sort O’Connor, Timothy D
collection PubMed
description MOTIVATION: Correctly modeling population structure is important for understanding recent evolution and for association studies in humans. While pre-existing knowledge of population history can be used to specify expected levels of subdivision, objective metrics to detect population structure are important and may even be preferable for identifying groups in some situations. One such metric for genomic scale data is implemented in the cross-validation procedure of the program ADMIXTURE, but it has not been evaluated on recently diverged and potentially cryptic levels of population structure. Here, I develop a new method, AdmixKJump, and test both metrics under this scenario. FINDINGS: I show that AdmixKJump is more sensitive to recent population divisions compared to the cross-validation metric using both realistic simulations, as well as 1000 Genomes Project European genomic data. With two populations of 50 individuals each, AdmixKJump is able to detect two populations with 100% accuracy that split at least 10KYA, whereas cross-validation obtains this 100% level at 14KYA. I also show that AdmixKJump is more accurate with fewer samples per population. Furthermore, in contrast to the cross-validation approach, AdmixKJump is able to detect the population split between the Finnish and Tuscan populations of the 1000 Genomes Project. CONCLUSION: AdmixKJump has more power to detect the number of populations in a cohort of samples with smaller sample sizes and shorter divergence times. AVAILABILITY: A java implementation can be found at https://sites.google.com/site/igsevolgenomicslab/home/downloads
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spelling pubmed-43259602015-02-13 AdmixKJump: identifying population structure in recently diverged groups O’Connor, Timothy D Source Code Biol Med Brief Reports MOTIVATION: Correctly modeling population structure is important for understanding recent evolution and for association studies in humans. While pre-existing knowledge of population history can be used to specify expected levels of subdivision, objective metrics to detect population structure are important and may even be preferable for identifying groups in some situations. One such metric for genomic scale data is implemented in the cross-validation procedure of the program ADMIXTURE, but it has not been evaluated on recently diverged and potentially cryptic levels of population structure. Here, I develop a new method, AdmixKJump, and test both metrics under this scenario. FINDINGS: I show that AdmixKJump is more sensitive to recent population divisions compared to the cross-validation metric using both realistic simulations, as well as 1000 Genomes Project European genomic data. With two populations of 50 individuals each, AdmixKJump is able to detect two populations with 100% accuracy that split at least 10KYA, whereas cross-validation obtains this 100% level at 14KYA. I also show that AdmixKJump is more accurate with fewer samples per population. Furthermore, in contrast to the cross-validation approach, AdmixKJump is able to detect the population split between the Finnish and Tuscan populations of the 1000 Genomes Project. CONCLUSION: AdmixKJump has more power to detect the number of populations in a cohort of samples with smaller sample sizes and shorter divergence times. AVAILABILITY: A java implementation can be found at https://sites.google.com/site/igsevolgenomicslab/home/downloads BioMed Central 2015-02-03 /pmc/articles/PMC4325960/ /pubmed/25678934 http://dx.doi.org/10.1186/s13029-014-0031-1 Text en © O’Connor; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Brief Reports
O’Connor, Timothy D
AdmixKJump: identifying population structure in recently diverged groups
title AdmixKJump: identifying population structure in recently diverged groups
title_full AdmixKJump: identifying population structure in recently diverged groups
title_fullStr AdmixKJump: identifying population structure in recently diverged groups
title_full_unstemmed AdmixKJump: identifying population structure in recently diverged groups
title_short AdmixKJump: identifying population structure in recently diverged groups
title_sort admixkjump: identifying population structure in recently diverged groups
topic Brief Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325960/
https://www.ncbi.nlm.nih.gov/pubmed/25678934
http://dx.doi.org/10.1186/s13029-014-0031-1
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